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.
