Question of the Week

Question :

Posted On : 24 Feb 2006

A newborn presents with severe hypotonia and abnormal facies which included high forehead, supraorbital ridge not prominent, retrognathia, high arched palate, lax skin in the neck, mild equinovarus defect and colpocephaly which was confirmed by CT scan head which showed communicating hydrocephalus. As the child is not able to maintain its oxygen saturation beyond 88 Percent without oxygen a possibility of cyanotic CHD was kept but 2d echo revealed acynotic CHD with ASD and PDA with LVEF = 72 Percent. What syndrome the child fits into? DTRs are absent but there are no tongue fasciculations. Child is on gavage feeds as is not able to swallow bcoz of retrognathia, dullness and severe hypotonia.

Expert Answer :

No expert answer available.

Answer Discussion :

vss

Pierre Robins syndrome

19 years ago

Natraj

patau syndrome

19 years ago

nikhil agrawal

zellweger syndrome

19 years ago

dr samrat chavan

Pier-robbin syndrome

19 years ago

pediatriconcall

The following are a possibility:

ACROCALLOSAL SYNDROME
ATHYROTIC HYPOTHYROIDISM SEQUENCE {PATENT DUCTUS ARTERIOSUS}
CARDIO-FACIO-CUTANEOUS {CFC} SYNDROME DELETION 4P SYNDROME
DELETION 4Q SYNDROME
DELETION 9P SYNDROME
DELETION 11Q SYNDROME
DELETION 18Q SYNDROME
DOWN SYNDROME {ENDOCARDIAL CUSHION DEFECT}
KABUKI SYNDROME
MILLER-DIEKER SYNDROME
MULIBREY NANISM SYNDROME {PERICARDIUM}
NOONAN SYNDROME
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I {SALDINO-NOONAN TYPE}
SHPRINTZEN SYNDROME {CONOTRUNCAL DEFECTS}
TRISOMY 13 SYNDROME
WILLIAMS SYNDROME
BLEPHAROPHIMOSIS SYNDROME
COFFIN-SIRIS SYNDROME
COHEN SYNDROME
DELETION 3P SYNDROME
DELETION 5P SYNDROME
DELETION 18P SYNDROME
FG SYNDROME
KILLIAN-TESCHLER-NICOLA SYNDROME LANGER-GIEDION SYNDROME
MARDEN-WALKER SYNDROME
OPITZ SYNDROME
SIMPSON-GOLABI-BEHMEL SYNDROME
SMITH-LEMLI-OPITZ SYNDROME
SOTOS SYNDROME
THANATOPHORIC DYSPLASIA
XXXXY SYNDROME
ZELLWEGER SYNDROME

19 years ago

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