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.
Answers of this discussion
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Author :- Jose Samosc on 18 April 2012.
Answer :- This baby presented with multiple structural and organic birth defects: Right microtia with agenesis of auditory canal, bilateral anophtalmia, congenital heart disease consistent by ecocardiogram with transposition of great arteries {ductus-dependent}awaiting cardiosurgical intervention, as well as karyotyping. Radioimaging {ultrasonography} of internal organs apparently normal. Baby is actually 3 months breastfeeding adequately without any complications under constant monitorization and followup.

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