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An omphalocele, epispedias, cleft palate, cranial deformity and facial dysmorphism: a case with midline and laterality defects

Authors:

L. B. L. Prabodha ,

University of Ruhuna, LK
About L. B. L.
Molecular Genetics Laboratory, Department of Anatomy
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T. S. D. Amarasena,

University of Ruhuna, LK
About T. S. D.
Department of Paediatrics
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I. Ilayperuma,

University of Ruhuna, LK
About I.
Molecular Genetics Laboratory, Department of Anatomy
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B. G. Nanayakkara

University of Ruhuna, LK
About B. G.
Molecular Genetics Laboratory, Department of Anatomy
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Abstract

A 7 year old male child with cleft soft palate, omphalocele, epispedias, posterior prominence of the skull, prominent forehead with high anterior hair line, dextraposition of the heart, right sided inguinal hernia, mental retardation, generalized hypotonia and flexion deformity of both toes and fingers presented to the paediatric clinic, Teaching Hospital Karapitiya, for the follow up management. Furthermore, the child had subtle dysmorphic features including, broad nasal bridge, hypertelorism and low set ears. He was the second child of the family and there were no other family history of congenital anomalies. The karyotype was 46XY. Mutations in chromosome bands 3p12-21, ZIC3 gene in human X chromosome and Wolf- Hirschhorn syndrome involving heterozygous deletion of 4p16.3 region (4p syndrome) can be presented with above clinical features and it is necessary to investigate the patient further for the genetic involvement.

How to Cite: Prabodha LBL, Amarasena TSD, Ilayperuma I, Nanayakkara BG. An omphalocele, epispedias, cleft palate, cranial deformity and facial dysmorphism: a case with midline and laterality defects. Sri Lanka Anatomy Journal. 2017;1(2):58–60. DOI: http://doi.org/10.4038/slaj.v1i2.43
Published on 31 Dec 2017.
Peer Reviewed

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