Post on 07-Apr-2018
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Foreword:
The mere absence of one
symptom or clinical featurecannot exclude a Disease
entity since signs andsymptoms vary in every
individual
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individual
Southwestern UniversityMHAM College of Medicine
CLINICO-PATHOLOGIC CASECONFERENCE
by: ACLB
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General Data:
• Baby Boy T., Male neonate,Roman Catholic, Filipino,
from Looc, Salvacion, Lapu-lapu City. Delivered viaCesarean section secondaryto Encephalocele
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Prenatal history:
• Mother is 36 years old, G2P1001• Blood type O Rh positive• Works in a Coffee shop• Prenatal care started at 4 months
AOG at VSMMC• Ultrasound (4 months AOG)- noted a
mass at the frontal area of the head.• Continued PNC with a private
Obstetrician
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Prenatal history:
• Repeat Ultrasound at 7 months AOG-Enlarging mass was noted at thefrontal area of the head and cleft lip.
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Natal history:
• Patient was delivered via Cesareansection secondary to Encephalocele
• Has good cry and good respiratoryeffort
• APGAR score: 8, 9• Ballard score: 39 weeks• Birth weight: 2,600 grams• AGA
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Physical examination:
Anthropometricmeasurements
Interpretation byPercentile:
Head circumference:
31.5 cm
10p
Chest circumference:31 cmAbdominal girth: 29 cm
Body length: 48 cm 25p
Birth weight: 2.6 kg 10p
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Physical examination:
• Vital signs:
HR 150 bpm 147 +/- 30.5
RR 50 cpm 59 +/- 18.2
Temperature:37.5
36.5- 37.5(core)
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Physical examination:
CVS Distinct Heart sound, nomurmur
Abdomen Globular, Umbilical cord has 2Arteries & 1 vein, soft, noorganomegaly
Genitalia Grossly male, Testes down,
good rugae
Extremities No Gross deformity, CRT < 2seconds
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The Salient Features
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Salient Features:
• ANTENATAL HISTORY:- Mother is 36 years old- Ultrasound at 4 months AOG showed a
mass at the frontal area of the head- Repeat ultrasound at 7 months AOG-
showed an enlarging mass at thefrontal area of the head
- Cleft lip
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Salient Features
Encephalocele- Occipital encephalocele is the most
common- 70 % of cases- Increased risk of developing
Hydrocephalus in any of the followingetiologies:Aqueduct stenosis,Chiari malformation,Dandy-Walker syndrome
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Salient feature
• Meckel-Gruber syndrome is a rareautosomal recessive condition that ischaracterized by an occipital
encephalocele.• Anterior encephalocele is associated
with Trisomy 18 and Robert’s
syndrome • Encephaloceles can be an isolated
finding or part of multiple anomalies like
chromosomal abnormalities
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Anterior encephalocele
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Cranium bifidum
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Salient feature
• Frontal encephalocele alwayscontain brain tissue and involvebridge of nose (60%) and nasalcavity (30%)
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Conditions with AnteriorEncephalocele
• MULTIFACTORIAL INHERITANCESingle Mutant gene: -Roberts syndrome-Median-cleft face syndromeChromosomal abnormalities:
-Trisomy 13 and 18
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Salient feature:
• CLEFT LIP and CLEFT PALATE-Are distinct entities closely related
embryologically, functionally, andgenetically
-The incidence of cleft lip with or withoutcleft palate is ≈1/750 white births
-the incidence of cleft palate alone is≈1/2,500 white births
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Salient Feature: Cleft lip/ Cleft palate
-Possible causes include maternal drugexposure, a syndrome-malformationcomplex, or genetic factors
-It can appear sporadically or inherited ina dominant fashion- van der Woude syndrome
- Can be part of a Multiple anomalysyndrome or can be an Isolated case
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Salient features:
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Salient feature:Isolatedanomaly
Cleft lip, cleft palate or bothAtypical facial cleft
Sequence Robin sequence;Holoprosyncephaly sequence;
Frontonasal dysplasiaChromosomalabnormalities
Trisomy 13, 18, 21; othertrisomies
Monogenicsyndromes Autosomal dominant;autosomal recessive disorders;X-linked disorders
Association Multiple congenital anomaliesof unknown etiologies
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Salient features:
• Widely spaced eyesHYPERTELORISM
- is an increased distance between theorbits of the face
- Can be an isolated finding, and in manycases may be normal for that individual.However, it may also be seen as part ofa group of defects
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Salient Feature
Conditions with Hypertelorism:• Chromosomal (sex chromosome abnormalitiesinvolving extra X chromosomes, unusual trisomy’ssuch as trisomy 14 and 9, chromosome deletions,
etc.)• Skull dysplasias – craniosynostosis disorders
(Apert’s Syndrome, Crouzon’s Syndrome,Carpenter’s Syndrome, Pfeiffer Syndrome, andSaethre-Chotzen Syndrome)
• Median facial plane defects (anterior cephaloceleand median facial cleft syndrome)
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Salient Feature:
• Mid-face tumors or growths (teratomas,gliomas, hemangiomas, mucoceles, etc.)
• Genetic Syndromes (such as Waardenburgsyndrome, Noonan Syndrome, RiegerSyndrome, Opitz Syndrome, etc.)
• Defects of the Brain (hydrocephalus,agenesis of the corpus callosum,
lissencephaly, megalencephaly, etc.)
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Salient feature
• Right Palpebral fissure smaller than theLeft:
=Microphthalmia -usually associated with malformations
=In unilateral microphthalmia, the normal eye can have apparent abnormality
=can be due to teratogens or chromosomal abnormalities or inheritance
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Salient feature:
• 4 Nostrils:• Polyrrhinia (Double nose) or
supernumenary nostrils ( accessorynostrils
• Usually associated with Genetic defect,chromosomal abnormalities,
pseudohypertelorism, or it can be anisolated case
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Salient feature
• Developmentalanomalies of the noseencompass a diverse
group of conditions.
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Salient feature
• LOW SET EARS
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Salient Feature
• Rare conditions that can cause low-setand malformed ears include:
• Beckwith-Wiedemann syndrome• Potter syndrome• Rubinstein-Taybi syndrome• Smith-Lemli-Opitz syndrome• Treacher Collins syndrome• Trisomy 13
• Trisomy 18
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Salient Feature
• SMALL PHARYNGEAL AREA-May occur as a result of Cleft Palate-Associated with nasal defects
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Salient Feature
• DISTINCT HEART SOUND, NOMURMUR
-Does not signify Congenital Heart defectis absent in the Neonate
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Salient Feature
• NO GROSS DEFORMITY ON THEEXTREMITIES
• GENITALIA GROSSLY MALE,TESTES DOWN, GOOD RUGAE
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Salient Feature:
• APGAR: 8,9• BALLARD SCORE: 39 WEEKS• BIRTH WEIGHT: 2,600 GRAMS• APPROPRIATE FOR GESTATIONAL
AGE• HEAD CIRCUMFERENCE: 31.5
cm(10p)• BIRTHLENGTH : 48 cm (25p)
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INQUIRIES
• Are there any physical deformities onthe head of his Parents? Is itnormocephalic, Large or small or
appropriate• Any Facial feature distinguishable from
the Parents?
• Any relative with congenital defect?• In the Antenatal history, Did the mother
incurred any illnesses?
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Inquiries
• Was the mother exposed to Radiationin the first and second trimester?
• Any medications the mother is takingduring pregnancy?
• Did she use medications to abort thefetus?
NATAL History:• Was the Cesarean elective or
emergency?
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Inquiries
• Is the fontanel open? Specially theAnterior fontanel?
• Is the Head Deformed or asymmetricalor Normocephalic?
ANCILLARY PROCEDURES• Was Babygram done?• CT scan?• MRI?• Cranial ultrasonography?
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• Echocardiogram?• Chest Radiography?• Was Karyotyping done? Or requested?• What are the results of the above
mentioned procedures?
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ALGORITHM of DIAGNOSIS
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Impression
MEDIAN-CLEFT FACE
SYNDROME(FRONTONASAL DYSPLASIA)
to considerTRISOMY 13 (PATAU SYNDROME)
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Median-Cleft face syndrome
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Median-cleft face syndrome(FRONTONASAL DYSPLASIA)
• Rare condition in which the midfacedoes not develop normally
• Affects the head and face
ETIOLOGY
• Cause is not known but can besporadic or familial
FRONTONASAL DYSPLASIA
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FRONTONASAL DYSPLASIAPATHOGENESIS • Anomalies explained by single
malformation – Nasal capsule fails to develop properly
causing disruption in the positioning in
the eyes and lack of formation of nasaltip
– Considered nonspecific developmentalfield defect
• Failure of two nasomedial processes tomerge in midline produces the rare truemidline cleft lip, cleft palate and
Hypertelorism.
CLINICAL FEATURES OF
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CLINICAL FEATURES OFFRONTONASAL DYSPLASIA
Eyes HypertelorismLateral displacement of inner canthi
Nose Varies from notched broad nasal tip, dividednostrils with hypoplasia, absence of prolabiumand premaxilla with cleft lip
forehead Widown's peakDefect in midline frontal bone (craniumbifidum occultum)
Mouth Cleft lip and/or cleft palate
others Frontal cutaneous lipoma or lipoma of corpuscallosum, Agenesis of corpus collosum
Anterior basal encephalocele
Frontonasal Dysplasia (Median-cleft lip
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Frontonasal Dysplasia (Median-cleft lipsyndrome
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FRONTONASAL DYSPLASIA(MEDIAN-CLEFT FACE SYNDROME)
DIFFERENTIALDIAGNOSES
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Trisomy 13 ( Patau syndrome)
• the fourth most common autosomaldisorder in humans
• prevalence of about 1/10,000 to 1/15,000live births
• is caused by the presence of an extracopy of chromosome 13
• Recurrence in future pregnancies is about1% in families where the mother is lessthan 35 years old
• It is most likely the age-specific risk for
the older mothers
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TRISOMY 13
Pattern of malformation
orofacial cleft congenital heart
malformations – 80%microphthalmia Encephalocele
posterior polydactylyof the limbsholoprosencephaly
Rudolphs Pediatrics, 21th edition
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Trisomy 13- CLINICAL FINDINGSNelson’s textbook of Pediatrics, 18 th edition
small abnormal skull;cerebral malformation,especially holoprosencephaly
Cleft lip often midline low-set malformedears
flexed fingers withpolydactyly
microphthalmia
ocular hypotelorism cardiac
malformations bulbous nose scalp defects
hypoplastic or absentribs
visceral and genitalanomalies
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Trisomy 13
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Trisomy 13
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Trisomy 13A 37 2/7 week gestational age male
infant with Patau syndromedemonstrating alobarholoprosencephaly withcyclopia . A) Facial features includedsloping forehead with a proboscissuperior to a single central palpebral
fissure. B) Close-up of the fusedeyelids and proboscis showing asingle nostril
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Trisomy 13
• The presence of holoprosencephalyis probably the single mostimportant finding that predicts
survival
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TRISOMY 13 DIAGNOSIS
• CYTOGENETIC STUDIES -chorionic villous sampling (10-13 weeks'
gestation) or amniocentesis (15 weeks'
gestation or later)
fluorescent in-situ hybridization (FISH)
i 3 G OS S
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Trisomy 13 DIAGNOSIS
• BLOOD CHEMISTRY -maternal serum alpha fetoprotein
(MSAFP),
-human chorionic gonadotropin (hCG),-Unconjugated estriol,-inhibin
TRISOMY 13 DIAGNOSIS
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TRISOMY 13 DIAGNOSIS
• IMAGING STUDIES WHILE IN UTERO
SERIAL ULTRASONOGRAPHY-determination of any Gross structuralabnormalities of the Fetus-Nuchal transluscency
T i 13 Di i
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Trisomy 13- Diagnosis
• KARYOTYPING- Determine the number of chromosomes- Determine any structural changes in the
chromosomesNormal result:Females: 44 autosomes & 2 sex chromosomes
( 46, XX)Males: 44 autosomes & 2 sex chromosomes( 46, XY)
Patau syndrome: (47, XX,+13)
T i 13 Di i
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Trisomy 13 Diagnosis
• Cranial ultrasound• Magnetic Resonance Imaging• CT-scan• Baby gram• Chest X-ray
B i f i l i
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Basis for inclusion
• Pattern of inheritance• Gross facial features- Hypertelorism- Midline cleft lip and cleft palate- Low set ears- Abnormal nasal structure- encephalocele
B i f E l i
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Basis for Exclusion
• Pattern of inheritance• Absence of Congenital heat malformation
based on PE
• Absent Lower limb defect• Absence of holoprosyncephaly• Appropriate for Gestational Age
• No microcephaly
CRANIOFRONTOFACIAL DYSPLASIA
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CRANIOFRONTOFACIAL DYSPLASIA
• A.K.A.COHEN SYNDROME-Usually an Inherited
X- linked dominantdisorder-Females are more
affected and moreSevere than Males-Birth weight and
length are normal
C i f t l d l i (C h )
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Craniofrontonasal dysplasia (Cohen)
CLINICAL FEATURES:• Coronal craniosynostosis• Brachecephaly• Frontal bossing• Profound ocular hypertelorism• Telecanthus• Coloboma• Syndactyly of the Phalanges and
Toes
C i f t l d l i
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Craniofrontonasal dysplasia
• Broad nasal tip or Bifid nose• Camptodactyly - presence of
contracture deformity of the proximal
interphalangeal joints• Pectus excavatum• Splitting and Brittle nails• Psychomotor developmental problems
C i f t l d l i
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Craniofrontonasal dysplasia
Camptodactyly
Craniofrontonasal d splasia
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Craniofrontonasal dysplasia
Brachycephaly , alsoknown as flat headsyndrome , is a typeof cephalic disorder.This occurs whenthe coronalsuture fuses
prematurely, causing ashortened front-to-backdiameter of the skull
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Basis for inclusion
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Basis for inclusion
• Pattern of inheritance• Ocular hypertelorism• Nasal deformity• Appropriate for Gestational age
Basis for Exclusion
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Basis for Exclusion
• Pattern of Inheritance• Absent cleft lip and palate• No encephalocele• Absence of limb anomaly
Roberts syndrome
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Roberts syndrome
• A.K.A.= Hypomelia-Hypotrichosis-FacialHemangioma syndrome;
PseudothalidomideSyndrome
• Autosomal recessive
disorder
Roberts syndrome
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Roberts syndrome
• Rare genetic disordercharacterized by growth delaysbefore and after birth (pre- and
postnatal growth deficiency);malformations of the arms andlegs (limbs ); distinctive
abnormalities of the skull and facial (craniofacial) region
Roberts syndrome Clinical Features
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Roberts syndrome- Clinical Features
• Bilateral SymmetricTetraphocomelia
• Prenatal growth retardation• Cleft lip/or Cleft palate
• Microbrachycephaly• Ocular Hypertelorism• Exophthalmos• Hypoplastic ala nasae with
beaked nose• Low set , malformed ear
• Ence halocele
b d
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Roberts syndrome- Diagnosis
CLINICAL DIAGNOSIS:• Prenatal Growth Retardation - low
birth length and weight that can range
from mild to severe• Limb Malformations - bilateral
symmetric tetraphocomelia,
oligodactyly, thumb aplasia, syndactyly,clinodactyly, and elbow and kneeflexion contractures
Roberts syndrome Clinical dx
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Roberts syndrome- Clinical dx
• Craniofacial Abnormalities - bilateralcleft lip andpalate, micrognathia, hypertelorism, ex
ophthalmos, down-slanting palpebralfissures, malar hypoplasia, hypoplasticnasal alae, and ear malformations
Roberts syndrome Diagnosis
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Roberts syndrome- Diagnosis
• Laboratory DiagnosisCytogenetic Testing- Premature centromere separation
(PCS) and is the most likely pathogenicmechanism for Roberts syndrome.Imaging studies in-utero
-Supportive
Basis for inclusion
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Basis for inclusion
• Pattern of Inheritance• Presence of midline cleft lip and cleft
palate
• Ocular hypetelorism• Anterior encephalocele• Nasal structural defect
Basis for Exclusion:
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Basis for Exclusion:
• No phocomelia or Limb anomalies• No growth restriction in utero• No growth restriction based on
Anthropometric measurements• No exophthalmos
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Thank very much!