Skeletal Manifestations in Patients with Genetic Disorders

Abstract

We studied 100 cases of children & infants attending genetic clinic at Ain Shams University. Their age ranging from 1 day to 14 years. 56 cases were males and 44 were females. Skeletal manifestations noted in 82 patient (82%) of total patients. All cases were subjected to complete physical examination and investigations including karyotyping, echocardiography, pelviabdominal ultrasound, xray skeletal survey, ct brain, MRI brain, slit lamp examination, fundus examination, visual evoked potential (VEP), electroretinogram (ERG), Audiometry, ABR if needed. They were classified into four main categories, chromosomal disorders, genetic syndromes, inborn errors of metabolism and others according to clinical examination and investigation done.