Diagnostic Dilemma

Dysmorphic syndrome

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 :
treacher collins
12 years ago
manish dhartarkar
congenital rubella syndrome
12 years ago

View More Comments

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0