Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

Abstract:

:We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.

journal_name

Indian J Pediatr

authors

Cakir M,Mungan I,Makuloglu M,Okten A

doi

10.1007/BF02898455

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

731-3

issue

8

eissn

0019-5456

issn

0973-7693

journal_volume

73

pub_type

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