Dysmorphic syndrome

Author: Jose Samos

Question
A six days old male neonate born of non-consanguineous marriage to a mother multiparous {G9} aged 34 years had bilateral anophthalmos, right auricle and auditory canal agenesis. Two siblings aged 2 and 4mths died due to bronchopneumonia. The present child at birth had APGAR score of 8, 9 with birth weight of 3.856kg. At 2 hrs of age, baby has hypoglycaemia along with ground brown vomiting, abdominal distension. Sepsis profile test {acute phase reactants negative} was negative. There was an acyanotic patent ductus arteriosus defect, hepatomegaly and mild cardiomegaly.

What is the diagnosis__?

Answer Discussion :

sameercash

treacher collins

12 years ago

manish dhartarkar

congenital rubella syndrome

12 years ago

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