Publication: Association of Seizure, Facial Dysmorphism, Congenital Umbilical Hernia and Undescended Testes
Date
2012
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
ABSTRACT
With the advances in neurogenetics association of epilepsy and intellectual
disability with chromosomal abnormalities are being increasingly recognized. While
onset of seizures with mental retardation at an early age indicate chromosomal
abnormality, combination of characteristics facial dysmorphism and congenital
abnormalities gives a clue of a particular syndrome. In addition MRI findings may
help in confirming the diagnosis. A nine years old boy is presented where early
onset seizure, mental retardation, delayed development of speech, presence of
facial dysmorphism,, umbilical hernia and undescended testes suggested possibility
of chromosomal 6q deletion disorder. Important deletion disorders are discussed
and importance of clinical examination is stressed.
KEY WORDS
Chromosome deletion, Cryptorchidism, Facial dysmorphism, Seizures, Umbilical
hernia
Description
Thapa LJ, Pokharel BR, Paudel R, Rana PVS
Department of Neurology College of Medical Sciences Bharatpur, Chitwan, Nepal