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

L B L Prabodha,T S D Amarasena,I Ilayperuma,B G Nanayakkara

doi:10.4038/slaj.v1i2.43

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.

Highlights

Disturbances of the normal asymmetric position of organs or situs inversus, have been described as laterality defects
Congenital anomalies of midline structures such as, esophageal defects, anal defects, neural tube defects, cleft lip and palate are considered as midline defects
It was stated that the mutations in chromosome bands 3p12-21 causing midline and laterality defects associate together more frequently

Summary

Introduction

INTRODUCTION Disturbances of the normal asymmetric position of organs or situs inversus, have been described as laterality defects. Animal model studies and human birth defect registries suggest that the midline and laterality defects are etiologically related (1). G., An omphalocele, epispedias, cleft palate, cranial deformity and facial dysmorphism: A Case with Midline and Laterality Defects.

Results

Conclusion