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A baby with cloverleaf A baby with cloverleaf
skull anomalyskull anomalyR 3R 3 羅永邦羅永邦
Supervisors: Drs.Supervisors: Drs. 許瓊心許瓊心 ,, 林炫沛
林炫沛 && 邱南昌邱南昌
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Admission Data Admission Data
ame:ame: 黃黃 !!!! 之女 之女 ""張張 !!#!!#
umber: 3$%'()*$umber: 3$%'()*$
Se!: +emaleSe!: +emale Admission Date: -)-3 Admission Date: -)-3 /hief complaints:/hief complaints:
%. 0rematurity "1A: 3' weeks#%. 0rematurity "1A: 3' weeks# '. Respiratory distress'. Respiratory distress
3. /on2enital anomaly3. /on2enital anomaly
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0resent llness0resent llness
0erinatal e!aminations at 45S-16 /linic did0erinatal e!aminations at 45S-16 /linic didnot show any abnormality.not show any abnormality.
7other was also denied of perinatal dru2 usa2e,7other was also denied of perinatal dru2 usa2e,infection or systemic disease.infection or systemic disease.
0R47 was noted since )-%' and tocolysis0R47 was noted since )-%' and tocolysis
performed since )-%' at 45S-16 /linic.performed since )-%' at 45S-16 /linic. Ampicillin 8! from )-%' and ' doses of Decadron Ampicillin 8! from )-%' and ' doses of Decadronwere 2iven.were 2iven.
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0resent llness0resent llness
Due to fetal distress "9R: *-min#,Due to fetal distress "9R: *-min#,emer2ency /-S was performed.emer2ency /-S was performed.
8he Ap2ar score (8he Ap2ar score (%% ))..
After birth, bradycardia was noted and After birth, bradycardia was noted andendotracheal tube was inserted. ;nder theendotracheal tube was inserted. ;nder thedia2nosis of 00R47, prematurity anddia2nosis of 00R47, prematurity andrespiratory distress, she was admitted forrespiratory distress, she was admitted for
further treatment and evaluation.further treatment and evaluation.
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0resent llness0resent llness
5irth history:5irth history:
D45 on -)-3 at '':'$D45 on -)-3 at '':'$
<D/: -(-'<D/: -(-'
1A: 3'1A: 3'== weeks, 55>: %,%2mweeks, 55>: %,%2m
?ia /-S due to fetal distress?ia /-S due to fetal distress
Ap2ar score: ( Ap2ar score: (%%))
00R47 noted since )-%'00R47 noted since )-%' 0renatal ampicillin since )-%'0renatal ampicillin since )-%'
0renatal steroid !' doses0renatal steroid !' doses
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0resent llness0resent llness
7aternal history7aternal history
1%0% healthy mother 1%0% healthy mother
o 1D7, 98, 8o!emia, A09, 009o 1D7, 98, 8o!emia, A09, 009 ;R"*#, +ever"*#;R"*#, +ever"*#
95sA2"*#, 95eA2"*#95sA2"*#, 95eA2"*#
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+amily 9istory+amily 9istory
' years old
51: A5
電子業
3 years old
51: A5
電子業
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0hysical <!amination0hysical <!amination
5lood pressure: )$-3(5lood pressure: )$-3(-'-'DopamineDopamine
usedused)-3$)-3$
9eart rate: %%$ -min9eart rate: %%$ -min Respiratory rate: $ -minRespiratory rate: $ -min
5ody temperature: 3$.3/5ody temperature: 3$.3/
1eneral appearance: acute ill lookin21eneral appearance: acute ill lookin2
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0hysical <!amination0hysical <!amination
9ead: /loverleaf skull
+rontal bone bossin2
Anterior fontanel:
(.) ! .)cm
7id*face hypoplasia
<yes: not in@ected<ar: suspect ear canal
obstruction
ose: suspect left canal
4bstruction
7outh: no cleft palate
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0hysical <!amination0hysical <!amination
+rontal area bossin2
0seudo low set ears
<!ophthalmos
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0hysical <!amination0hysical <!amination
8hora!: symmetric e!pansion
no pi2eon chest
/hest: breathin2 sound: coarse
o rale, no wheein29eart: R95, no murmur or thrill
Abdomen: Soft and flat
5owel sound: normactive
o hepatosplenome2aly
<!tremities: free movable
o shortened limbsRectum and anus: patent
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Baboratory Data ")-3#Baboratory Data ")-3#
/5//5/
92b: %(. 2-dB, 9ct: )3.$C, 7/?: %%$.)92b: %(. 2-dB, 9ct: )3.$C, 7/?: %%$.)
>5/: ,$ -uB, 0B8: 3',-uB, 51: 5>5/: ,$ -uB, 0B8: 3',-uB, 51: 5
5and: C, eut: '3C, <osin: 'C, 5aso: %C5and: C, eut: '3C, <osin: 'C, 5aso: %C5aso: %C, 7onocyte: %C, Bym: ('C5aso: %C, 7onocyte: %C, Bym: ('C
Atypical lymphocyte: %C Atypical lymphocyte: %C
/hemistry/hemistryDe!: 3 m2-dlDe!: 3 m2-dl, a: %) m<-B, a: %) m<-B
E: . m<-dl, +ree /a: %.% mmol-BE: . m<-dl, +ree /a: %.% mmol-B
Arterial Arterial5lood 1as5lood 1as
09: (.33', 0a/4': ). mm92, 0a4':09: (.33', 0a/4': ). mm92, 0a4':%'.%mm92, 9/43: '3. mmol-B%'.%mm92, 9/43: '3. mmol-B
5<: *'.% mmol-B5<: *'.% mmol-B
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Baboratory Data ")-3#Baboratory Data ")-3#
/S+/S+1lucose: 3 m2-dB, 0rotein: %( m2-dB1lucose: 3 m2-dB, 0rotein: %( m2-dBR5/: ) -/77, >5/: ' -/77R5/: ) -/77, >5/: ' -/77
B : F : 'B : F : '
血清病毒血清病毒
/R0: G.% m2-dB, R0R: non*reactive/R0: G.% m2-dB, R0R: non*reactive
;rine 15S: ne2ative;rine 15S: ne2ative
Rubella 27: .%' "G.#Rubella 27: .%' "G.#
9S?*% 27: .3 "G%#9S?*% 27: .3 "G%#
9S?*' 27: .)% "G%#9S?*' 27: .)% "G%#8o!oplasma 27: . "G.)#8o!oplasma 27: . "G.)#
/7? 27: . "G.)#/7? 27: . "G.)#
mmunemmune 8otal 27: m2-dB8otal 27: m2-dB
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Baboratory Data ")-3#Baboratory Data ")-3#
/HR ")-3#: 0arahilar/HR ")-3#: 0arahilar
radiatin2 con2estionradiatin2 con2estion
of both lun2s is seen.of both lun2s is seen.
Sli2ht overaeration ofSli2ht overaeration ofbilateral lun2s is seen.bilateral lun2s is seen.
o limbs or vertebraeo limbs or vertebrae
abnormalitiesabnormalities
70: Retention of lun270: Retention of lun2
fluid.fluid.
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mpressionmpression
%. 0rematurity "1A: 3'= weeks, 55>: %% 2m#%. 0rematurity "1A: 3'= weeks, 55>: %% 2m#
'. 0R47 about % days'. 0R47 about % days
3. Respiratory distress, suspect RDS 2rade 3. Respiratory distress, suspect RDS 2rade
. 9ypotension. 9ypotension
). /on2enital anomaly). /on2enital anomaly
r-o /rouon syndromer-o /rouon syndrome
r-o 8hanatophoric dysplasiar-o 8hanatophoric dysplasia
r-o /raniosynostosisr-o /raniosynostosis
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9ospital /ourse9ospital /ourse
nitial mana2ement:nitial mana2ement:
%. 4n <88 = 7?%. 4n <88 = 7?
'. -S challen2e first, then add Dopamine'. -S challen2e first, then add Dopamine")-3I)-3%#")-3I)-3%#
3. Ampicillin and 2entamicin ")-3I$-$#3. Ampicillin and 2entamicin ")-3I$-$#
for suspected con2enital infectionfor suspected con2enital infection
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9ospital /ourse9ospital /ourse
5rain echo ")-3%#: ?entricular dilatation, bilateralJ5rain echo ")-3%#: ?entricular dilatation, bilateralJsuspect pachy2yriasuspect pachy2yria
Renal echo ")-3%#: ne2ative findin2sRenal echo ")-3%#: ne2ative findin2s
Abdominal echo ")-3%#: 2all bladder is visibleJ no Abdominal echo ")-3%#: 2all bladder is visibleJ nointra*abdominal mass was notedintra*abdominal mass was noted
9eart echo ")-3%#: 0DA "left to ri2ht, .%$ cm#,9eart echo ")-3%#: 0DA "left to ri2ht, .%$ cm#,098 ")$.) mm92#, Dysarrhythmia098 ")$.) mm92#, Dysarrhythmia
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9ospital /ourse9ospital /ourse
9is respiratory distress improved, so9is respiratory distress improved, so
endotracheal tube was removed andendotracheal tube was removed and
chan2ed to 4' hood since $-%chan2ed to 4' hood since $-%
D/ 4' hood on $-(D/ 4' hood on $-(
/ulture/ulture 5lood culture ")-3#: no 2rowth5lood culture ")-3#: no 2rowth
/S+ culture ")-3#: no 2rowth/S+ culture ")-3#: no 2rowth/hromosome/hromosomestudystudy
$, HH, normal$, HH, normal
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Skull 0A = BA8 view "$-%#Skull 0A = BA8 view "$-%#
4bliteration of bilateral coronal and4bliteration of bilateral coronal and
Bambdoidal sutures of skull is seenBambdoidal sutures of skull is seen..
0remature closure is considered.0remature closure is considered.
Association with Association with cloverleaf skull syndromecloverleaf skull syndrome is consideredis considered
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9ospital /ourse9ospital /ourse
/onsult 4phthalmolo2ist:/onsult 4phthalmolo2ist:
ncomplete re2ression of hyaloid vesselsJncomplete re2ression of hyaloid vesselsJ
?essels constriction of left eye?essels constriction of left eye
mpression:mpression:
%. /on2enital abnormality of retinal vessel "4S#%. /on2enital abnormality of retinal vessel "4S#
'. 4ptic neuropathy "4S#'. 4ptic neuropathy "4S#
Su22est ?<0 e!aminations after 2eneralSu22est ?<0 e!aminations after 2eneral
condition stabiliedcondition stabilied
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9ospital /ourse9ospital /ourse
Add aminophylline since $-' Add aminophylline since $-'
+-; brain echo "$-3#: ?entriculome2aly,+-; brain echo "$-3#: ?entriculome2aly,
bilateral, symmetricJ Suspect pachy2yriaJbilateral, symmetricJ Suspect pachy2yriaJ
9i2h R ".# 9i2h R ".#
Arran2e brain 7R with-without contrast Arran2e brain 7R with-without contrast
on $-3on $-3
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94.6.3
Cavum septum
pellucidum
Cavum vergae
%. Dilatation of the lateral ventricles is noted, 8he 3rd
ventricle is mildly dilated. 0resence of cavum septum
pellucidum and cavum ver2ae is noted.
'. 8he cerebral cortical sulci is broad and flattened,
pachy2yria is considered.
3. 5rachicephaly is noted. 8rilobed skull is
demonstrated on coronal ima2es. /loverleaf skull
syndrome due to premature closure of multiple cranial
sutures is considered.
. 8he posterior portion of the septum pellucidum isnot visualied.
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5rain 7R "$-3#5rain 7R "$-3#
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%. 8he posterior fossa
s small and torcular is low
Byin2. 8onsillar herniation
8hru the foramen ma2num
s also noted.
'. o abnormal
enhancement is noted.
3. 8he pituitary 2land,
cavernous sinuses and
cerebellopontine an2les
appear normal and
symmetric.
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5rain 7R "$-3#5rain 7R "$-3#
mpression:mpression:
%. /loverleaf skull syndrome, followin2 anomalies%. /loverleaf skull syndrome, followin2 anomaliesincludin2 acrocephalopolysyndactylies "/rouon, 0feiffer,includin2 acrocephalopolysyndactylies "/rouon, 0feiffer,/arpenter, ApertKetc.# and type form of thanatophoric/arpenter, ApertKetc.# and type form of thanatophoric
dysplasia should be considered in the differentialdysplasia should be considered in the differentialdia2nosis.dia2nosis.
'. Dilatation of the lateral ventricles and presence of'. Dilatation of the lateral ventricles and presence ofcavum septum pellucidum and cavum ver2ae.cavum septum pellucidum and cavum ver2ae.
3. 0achy2yria.3. 0achy2yria. . Small posterior fossa and cerebellar tonsilar. Small posterior fossa and cerebellar tonsilar
herniation.herniation.
). Absent posterior septum pellucidum.). Absent posterior septum pellucidum.
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5rain /8 "$-#5rain /8 "$-#
%. Dilatation of the lateral ventricles andmild dilatation of the 3rd ventricle are noted.
0resence of cavum septum pellucidum and
cavum ver2ae is noted.
'. 8he posterior septum pellucidum is not
visualied.
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5rain /8 "$-#5rain /8 "$-#
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5rain /8 "$-#5rain /8 "$-#
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5rain /8 "$-#5rain /8 "$-#
%. 0remature closure of multiple cranial sutures
causin2 trilobed appearance of skull on coronal
ima2es and brachicephaly is seen, cloverleaf skull
syndrome is considered. 5eaten copper
appearance of the skull is also noted.
'. <nlar2ement of the fontanelles is noted.
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5rain /8 "$-#5rain /8 "$-#
mpression:mpression:
%. /loverleaf skull syndrome.%. /loverleaf skull syndrome.
'. Dilatation of the lateral ventricles and'. Dilatation of the lateral ventricles andmild dilatation of the 3rd ventricle andmild dilatation of the 3rd ventricle and
presence of cavum septum pellucidumpresence of cavum septum pellucidum
and cavum ver2ae.and cavum ver2ae.
3. Absent posterior septum pellucidum.3. Absent posterior septum pellucidum.
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9ospital /ourse9ospital /ourse
+reuent bradycardia "(I-min#, apnea+reuent bradycardia "(I-min#, apnea andanddesaturation "(IC# noted on $-%)desaturation "(IC# noted on $-%)
o fever, no hypotensiono fever, no hypotension 9ead circumference increased from9ead circumference increased from
'(.) cm to ' cm'(.) cm to ' cm
5rain echo "$-%)#:5rain echo "$-%)#:
0ro2ressin2 ventriculome2aly, bilateral0ro2ressin2 ventriculome2aly, bilateral
9ydrocephalus, non*communicatin2 type9ydrocephalus, non*communicatin2 type 0achy2yria, suspect lissencephaly0achy2yria, suspect lissencephaly
9i2h R "%.#9i2h R "%.#
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9ospital /ourse9ospital /ourse
/0 was hi2hly suspected, so /S+ tappin2 was/0 was hi2hly suspected, so /S+ tappin2 wasperformed, however, reddish /S+ fluid was notedperformed, however, reddish /S+ fluid was noted
Bab data "%# Bab data "%# Bab data "'#Bab data "'# /HR/HR 5rain /8 "$-%)#:5rain /8 "$-%)#:
%. /loverleaf skull syndrome.%. /loverleaf skull syndrome.
'. Dilatation of the lateral ventricles and mild dilatation of'. Dilatation of the lateral ventricles and mild dilatation of
the 3rd ventricle and presence of cavum septumthe 3rd ventricle and presence of cavum septumpellucidum and cavum ver2ae.pellucidum and cavum ver2ae.
3. Absent posterior septum pellucidum.3. Absent posterior septum pellucidum.
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9ospital /ourse9ospital /ourse
/onsult eurosur2eon immediately/onsult eurosur2eon immediately
<!traventricular device was inserted on $-%),<!traventricular device was inserted on $-%),
then /efameine for post*operation prophyla!isthen /efameine for post*operation prophyla!is
"$-%$I$-%#"$-%$I$-%# 0R5/ was transfused after 400R5/ was transfused after 40
Buminal for preventin2 seiure "$-%)I#Buminal for preventin2 seiure "$-%)I#
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9ospital /ourse9ospital /ourse
9er bradycardia and desaturation improved a lot9er bradycardia and desaturation improved a lot
after operationafter operation
<?D dischar2e: %cc "$-%$#<?D dischar2e: %cc "$-%$#3(cc "$-%(#3(cc "$-%(#''.)cc "$-%#''.)cc "$-%#'cc "$-%#'cc "$-%#
5rain echo "$-%$#: 9ydrocephalus, -p ?*0 shuntJ5rain echo "$-%$#: 9ydrocephalus, -p ?*0 shuntJDecreased ventricle sie, bilateralDecreased ventricle sie, bilateral
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9ospital /ourse9ospital /ourse
;nfortunately, her;nfortunately, her +1+R3 2ene 0/R showed+1+R3 2ene 0/R showedpositive on $-%positive on $-%, so 8hanatophoric dysplasia, so 8hanatophoric dysplasiawas hi2hly suspectedwas hi2hly suspected
?ery poor pro2nosis was told, so her family?ery poor pro2nosis was told, so her familydecided to remove <?D shunt since thendecided to remove <?D shunt since then
After detailed e!planation of the conseuence of After detailed e!planation of the conseuence ofremovin2 <?D shunt to her family, her <?Dremovin2 <?D shunt to her family, her <?Dshunt was removed on $-'shunt was removed on $-'
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9ospital /ourse9ospital /ourse
9owever, further 2enetic study had ruled out the9owever, further 2enetic study had ruled out the
possibility of thanatophoric dysplasiapossibility of thanatophoric dysplasia
ewborn screen: normalewborn screen: normal
8andem mass: normal8andem mass: normal
Seuencin2 of +1+R3 2ene: normalSeuencin2 of +1+R3 2ene: normal
0/R study of +1+R' 2ene: pendin20/R study of +1+R' 2ene: pendin2
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9ospital /ourse9ospital /ourse
5rain echo "$-3#:
%. 0ro2ressive bilateral ventricle dilatation
'. Suspect blood clot inside the ventricle, bilateral
3. 0orencephaly at ri2ht fronto*parietal area, due to <?D
. 9i2h R ".(#
5rain echo "(-$#:
%. 9ydrocephalus, non*communicatin2 type, pro2ressin2
'. 0orencephaly at ri2ht fronto*parietal area, pro2ressin23. 9i2h R "%.#
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9ospital /ourse "(-(#9ospital /ourse "(-(#
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9ospital /ourse "(-(#9ospital /ourse "(-(#
At this point, she At this point, she
would 2et bradycardiawould 2et bradycardia
easily if you press oneasily if you press on
her anterior fontanelher anterior fontanel2ently2ently
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9ospital /ourse "(-%)#9ospital /ourse "(-%)#
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DiscussionDiscussion
%.%. /raniosynostosis/raniosynostosis
'.'. /loverleaf skull syndrome/loverleaf skull syndrome
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/raniosynostosis/raniosynostosis
Primary craniosynostosisPrimary craniosynostosis: a primary defect of: a primary defect of
ossificationossification
Secondary craniosynostosisSecondary craniosynostosis: a failure of brain: a failure of brain
growth, more commonlygrowth, more commonly
Syndromic craniosynostosisSyndromic craniosynostosis: display other body: display other body
deformitiesdeformities
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/raniosynostosis/raniosynostosis
Simple craniosynostosisSimple craniosynostosis: only 1 suture fuses: only 1 suture fuses
prematurelyprematurely
Complex or compound craniosynostosisComplex or compound craniosynostosis::
premature fusion of multiple suturespremature fusion of multiple sutures
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/raniosynostosis/raniosynostosis
The coronal suture separates the 2The coronal suture separates the 2frontal bones from the parietal bones.frontal bones from the parietal bones.
The metopic suture separates theThe metopic suture separates thefrontal bones.frontal bones.
The sagittal suture separates the 2The sagittal suture separates the 2
parietal bones.parietal bones. The lambdoid suture separates theThe lambdoid suture separates the
occipital bone from the 2 parietaloccipital bone from the 2 parietalbones.bones.
The primary factor that eeps suturesThe primary factor that eeps sutures
open is ongoing brain growth.open is ongoing brain growth. !ormal sull growth occurs!ormal sull growth occurs
perpendicular to each suture.perpendicular to each suture.
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Primary craniosynostosisPrimary craniosynostosis
"hen 1 or more sutures fuse prematurely, sull growth can"hen 1 or more sutures fuse prematurely, sull growth canbe restricted perpendicular to the suture. #f multiple suturesbe restricted perpendicular to the suture. #f multiple suturesfuse while the brain is still increasing in si$e,fuse while the brain is still increasing in si$e, intracranialintracranialpressurepressure can increase.can increase.
Cause: a primary defect in the mesenchymal layerCause: a primary defect in the mesenchymal layerossification in the cranial bones.ossification in the cranial bones.
% gene locus for single suture craniosynostosis has not% gene locus for single suture craniosynostosis has notbeen identified.been identified.
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ScaphocephalyScaphocephaly * <arly fusion of the* <arly fusion of the sa2ittalsa2ittal suturesuture
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Ant. pla2iocephaly Ant. pla2iocephaly * <arly fusion of %* <arly fusion of % coronal suturecoronal suture
0ost. pla2iocephaly0ost. pla2iocephaly * <arly closure of %* <arly closure of % lambdoid suturelambdoid suture
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5rachycephaly5rachycephaly * <arly bilateral* <arly bilateral coronal suturecoronal suture fusionfusion
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8ri2onocephaly8ri2onocephaly * <arly fusion of the* <arly fusion of the metopic suturemetopic suture
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Secondary craniosynostosisSecondary craniosynostosis
&ore fre'uent&ore fre'uent
(arly fusion of sutures due to(arly fusion of sutures due to primary failure of brain growthprimary failure of brain growth
#ntracranial pressure usually is normal, and surgery seldom#ntracranial pressure usually is normal, and surgery seldom
is neededis needed #ntrauterine space constraints may play a role in the#ntrauterine space constraints may play a role in the
premature fusion of sutures in the fetal sull. This has beenpremature fusion of sutures in the fetal sull. This has beendemonstrated in coronal craniosynostosisdemonstrated in coronal craniosynostosis
&icrocephaly&icrocephaly usually suggests a secondaryusually suggests a secondarycraniosynostosiscraniosynostosis
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Secondary craniosynostosisSecondary craniosynostosis
(ndocrine(ndocrine
)yperthyroidism, hypophosphatemia, *itamin + deficiency,)yperthyroidism, hypophosphatemia, *itamin + deficiency,renal osteodystrophy, hypercalcemia, and ricetsrenal osteodystrophy, hypercalcemia, and ricets
)ematologic disorders)ematologic disorders
"hich cause bone marrow hyperplasia eg, sicle cell"hich cause bone marrow hyperplasia eg, sicle celldisease, thalassemia-disease, thalassemia-
#nade'uate brain growth#nade'uate brain growth
&icrocephaly and its causes and shunted hydrocephalus&icrocephaly and its causes and shunted hydrocephalus
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Syndromic /raniosynostosisSyndromic /raniosynostosis
Craniosynostosis sometimes is associated with sporadicCraniosynostosis sometimes is associated with sporadiccraniofacial syndromes such ascraniofacial syndromes such as Crou$on, %pert, Chot$en,Crou$on, %pert, Chot$en,Pfeiffer, or Carpenter syndromes.Pfeiffer, or Carpenter syndromes.
#n this context, facial features, typically#n this context, facial features, typically craniofacialcraniofacialabnormalities, suture ridging, and early closure ofabnormalities, suture ridging, and early closure offontanellesfontanelles, suggest the diagnosis., suggest the diagnosis.
enetic mutations responsible forenetic mutations responsible for fibroblast growth factorfibroblast growth factorreceptors 2 and /receptors 2 and /
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/raniosynostosis/raniosynostosis
#ncidence in the 0S:#ncidence in the 0S: . 3 .14. 3 .14
23542354 had primary craniosynostosis, others werehad primary craniosynostosis, others weresecondary craniosynostosissecondary craniosynostosis
Sagittal 67654Sagittal 67654, coronal 27284, metopic 714,, coronal 27284, metopic 714,and lambdoid 274.and lambdoid 274.
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/raniosynostosis/raniosynostosis
9aised intracranial pressure is rare with fusion of a single9aised intracranial pressure is rare with fusion of a single
suture. #t can occur in primary craniosynostosis whensuture. #t can occur in primary craniosynostosis when
multiple sutures fuse.multiple sutures fuse.
Signs include sun7setting eyes, papilledema, *omiting, andSigns include sun7setting eyes, papilledema, *omiting, and
lethargy.lethargy.
Craniosynostosis of 172 sutures: Cosmetic defect is theCraniosynostosis of 172 sutures: Cosmetic defect is the
primary morbidity.primary morbidity.
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Dia2nosis of /raniosynostosisDia2nosis of /raniosynostosis
#mage studies:#mage studies:
1. Sull 7ray with %P, lat. and water *iew1. Sull 7ray with %P, lat. and water *iew
2. Cranial CT scan with /7dimensional2. Cranial CT scan with /7dimensionalreconstructionreconstruction
(ndocrine e*aluation: ;rder thyroid and parathyroid(ndocrine e*aluation: ;rder thyroid and parathyroidstudies when associated features suggest thesestudies when associated features suggest these
diagnoses.diagnoses.
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8reatment of /raniosynostosis8reatment of /raniosynostosis
#n patients with microcephaly, in*estigate the cause#n patients with microcephaly, in*estigate the cause
Carefully monitor signs and symptoms of ele*atedCarefully monitor signs and symptoms of ele*ated
intracranial pressureintracranial pressure
Surgery typically is indicated for increasedSurgery typically is indicated for increasedintracranial pressure or for cosmetic reasons.intracranial pressure or for cosmetic reasons.
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8reatment of /raniosynostosis8reatment of /raniosynostosis
+o not operate in patients without ##CP until+o not operate in patients without ##CP until thethe
shape of the head does not impro*e byshape of the head does not impro*e by age 27age 27
monthsmonths, then the abnormality is unliely to resol*e, then the abnormality is unliely to resol*e
with age with age
Cosmetic surgery is performed in infantsCosmetic surgery is performed in infants aged /7<aged /7<
monthsmonths in the author=s practicein the author=s practice
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/loverleaf skull/loverleaf skull
syndromesyndrome
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
>leeblattsch?del ie,>leeblattsch?del ie,
clo*erleaf sull-clo*erleaf sull- resultsresults
from fusion of all suturesfrom fusion of all sutures
except theexcept the metopic andmetopic ands'uamosal suturess'uamosal sutures, gi*ing, gi*ing
the head a clo*erleafthe head a clo*erleaf
appearanceappearance
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
Clo*erleaf sull or leeblattschadel is a rareClo*erleaf sull or leeblattschadel is a rare
malformation caused by synostosis of multiplemalformation caused by synostosis of multiple
cranial sutures.cranial sutures.
#t can be associated with#t can be associated with hydrocephalus, proptosis,hydrocephalus, proptosis,
and hypoplasia of the midface and cranial baseand hypoplasia of the midface and cranial base
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
&any syndrome present with clo*erleaf sull&any syndrome present with clo*erleaf sull
including most of the acrocephalopolysyndactyliesincluding most of the acrocephalopolysyndactylies
Crou$on, Pfeiffer, Carpenter, %pert@-Crou$on, Pfeiffer, Carpenter, %pert@-
#t is also typical of the type ## form of thanatophoric#t is also typical of the type ## form of thanatophoric
dysplasia another AA9 mutation-.dysplasia another AA9 mutation-.
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
Differential dia2nosisDifferential dia2nosis
%. /rouon syndrome%. /rouon syndrome
'. Apert syndrome'. Apert syndrome
3.3. Pfeiffer syndromePfeiffer syndrome
. Carpenter syndrome. Carpenter syndrome
6. Thanatophoric dysplasia type ##6. Thanatophoric dysplasia type ##
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/rouon Syndrome/rouon Syndrome
Coronal and sagittalCoronal and sagittal
sutures are mostsutures are most
commonly in*ol*edcommonly in*ol*ed
Clo*erleaf sull is rare andClo*erleaf sull is rare andoccurs in the mostoccurs in the most
se*erely affectedse*erely affected
indi*iduals.indi*iduals.
)ydrocephalus)ydrocephalus
progressi*e in /4-progressi*e in /4-
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/rouon Syndrome/rouon Syndrome
7idface "ma!illary# hypoplasia
<!ophthalmos secondary to shallow orbits4cular hypertelorism
ose: 5eaked appearance
7outh: 7andibular pro2nathism
arrow, hi2h, or cleft palate and bifid uvula
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/rouon Syndrome/rouon Syndrome
;ther seletal features;ther seletal features Bloc fusions in*ol*ing multiple *ertebrae, Cer*ical fusion 154-,Bloc fusions in*ol*ing multiple *ertebrae, Cer*ical fusion 154-,
C27C/ and C67C<C27C/ and C67C< Subluxation of the radial heads , %nylosis of the elbowsSubluxation of the radial heads , %nylosis of the elbows
SinSin%pproximately 64 of patients ha*e%pproximately 64 of patients ha*e acanthosis nigricansacanthosis nigricans, which is, which isdetectable after infancy. The hallmar of these lesions is a dareneddetectable after infancy. The hallmar of these lesions is a darenedthicened sin with accentuated marings and a *el*ety feelthicened sin with accentuated marings and a *el*ety feel
Central ner*ous systemCentral ner*ous system %pproximately%pproximately /4 of patients ha*e chronic tonsillar herniation/4 of patients ha*e chronic tonsillar herniation..
;f these, 4 ha*e progressi*e hydrocephalus.;f these, 4 ha*e progressi*e hydrocephalus. Syringomyelia may be present.Syringomyelia may be present.
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Apert Syndrome Apert Syndrome
Coronal sutures mostCoronal sutures most
commonly are in*ol*edcommonly are in*ol*ed
Darge late7closing fontanelsDarge late7closing fontanels
aping midline defectaping midline defect
9are clo*erleaf sull anomaly is9are clo*erleaf sull anomaly is
found in approximatelyfound in approximately 44 ofof
infantsinfants
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Apert Syndrome Apert Syndrome
<!tremities and di2its<!tremities and di2its SyndactylySyndactyly involves the hands andinvolves the hands and
feet with partial*to*complete fusionfeet with partial*to*complete fusion
of the di2itsof the di2its
;pper limbs;pper limbs are affected moreare affected more
severelyseverely
/entral nervous system/entral nervous system ntelli2ence varies fromntelli2ence varies from
normal to mental deficiencynormal to mental deficiency 0apilledema and optic0apilledema and optic
atrophy with loss of visionatrophy with loss of vision
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Apert Syndrome Apert Syndrome
SinSin )yperhidrosis common-)yperhidrosis common-
Cardio*ascular 14-Cardio*ascular 14- %S+, P+%, ES+, PS, ;*erriding aorta, Co%, +extrocardia, T;A, (ndocardial%S+, P+%, ES+, PS, ;*erriding aorta, Co%, +extrocardia, T;A, (ndocardial
fibroelastosisfibroelastosis
enitourinary 8.<4-enitourinary 8.<4- Polycystic idneys, +uplication of renal pel*is, etc..Polycystic idneys, +uplication of renal pel*is, etc..
astrointestinal 1.64-astrointestinal 1.64-
Pyloric stenosis, (sophageal atresia and tracheoesophageal fistula, etc..Pyloric stenosis, (sophageal atresia and tracheoesophageal fistula, etc..
9espiratory 1.64-9espiratory 1.64- %nomalous tracheal cartilage, Tracheoesophageal fistula, Pulmonary aplasia, %bsent%nomalous tracheal cartilage, Tracheoesophageal fistula, Pulmonary aplasia, %bsent
right middle lobe of lung, %bsent interlobular lung fissuresright middle lobe of lung, %bsent interlobular lung fissures
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0feiffer Syndrome0feiffer Syndrome
Sull is prematurely fused andSull is prematurely fused and
unable to grow normallyunable to grow normally
Bulging wide7set eyes due toBulging wide7set eyes due to
shallow eye socets shallow eye socets occularoccular
proptosis) proptosis) 0nderde*elopment of the0nderde*elopment of the
midfacemidface
Broad, short thumbs and bigBroad, short thumbs and big
toestoes Possible webbing of the handsPossible webbing of the hands
and feetand feet
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/arpenterLs Syndrome/arpenterLs Syndrome
Head and neck:Head and neck: /raniosynostosis/raniosynostosisfirst involvin2 thefirst involvin2 the sa2ittal andsa2ittal andlambdoidlambdoid sutures later e!tendin2sutures later e!tendin2to the coronal sutures. /loverleafto the coronal sutures. /loverleafskull may occur skull may occur
Ears:Ears: Bow set ears andBow set ears andpreauricular fistulae.preauricular fistulae.
Eyes:Eyes: 9ypertelorism, mildly9ypertelorism, mildlydownward slantin2 of the palpebraldownward slantin2 of the palpebralfissures, epicanthic folds,fissures, epicanthic folds,microcornea, corneal opacity, andmicrocornea, corneal opacity, and
optic atrophyoptic atrophy
Nose:Nose: +lat nasal brid2e.+lat nasal brid2e.
Mouth and oral structures:Mouth and oral structures: A Anarrow or hi2hly arched palate.narrow or hi2hly arched palate.
Hand and foot:Hand and foot: 8he fin2ers are8he fin2ers areshort and stubby with a2enesisshort and stubby with a2enesisof the middle phalan2es and softof the middle phalan2es and soft
tissuetissue syndactylysyndactyly, especially of, especially ofthe third and fourth fin2ers.the third and fourth fin2ers.
Cardiovascular system:Cardiovascular system: About Aboutone third of all casesone third of all cases
Growth and development:Growth and development: 1rowth retardation is a constant1rowth retardation is a constantfeaturefeature. 7ental retardation is. 7ental retardation iscommon but not constant.common but not constant.
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8hanatophoric Dysplasia8hanatophoric Dysplasia
Severe 2rowth deficiency with anSevere 2rowth deficiency with anavera2e len2th of cm at termavera2e len2th of cm at term
A macrocephalic head with a frontal A macrocephalic head with a frontalbossin2, a flattened nasal brid2e,bossin2, a flattened nasal brid2e,and proptotic eyesand proptotic eyes
n 8D ', an 8D ', a cloverleaf*shaped skullcloverleaf*shaped skull resultin2 from premature closure ofresultin2 from premature closure ofthe cranial suturesthe cranial sutures
arrow thora! with small ribsarrow thora! with small ribs
7icromelic limbs with brachydactyly7icromelic limbs with brachydactyly
0rotuberant abdomen0rotuberant abdomen
9ydrocephalus and other cerebral9ydrocephalus and other cerebralparenchymal abnormalitiesparenchymal abnormalities
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/loverleaf Skull Syndrome/loverleaf Skull Syndrome
enetic anomalies: &ost are de no*o mutation of theAA917/.
ex: 1. Crou$on diseaseAA92
2. Thanatophoric dysplasia
AA9/
Prognosis: "hen associated with hydrocephalus theoutcome is usually poor with fre'uent death in infancy
Surgical management: relie*ing the intracranialhypertension and correcting the aesthetic appearance.