الفهرس 
Review of LiteratureOnly 14 pages are availabe for public view
 |  | from | 261 |  |  |
| | | from | 261 | | |
Abstract
The objective of this study to assess the importance of skeletal manifestations in patient with genetic disorders for early detection of any skeletal anomaly which may be the guide line for many genetic syndromes.
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.
Karyotype was done whenever indicated for recommended patients with multiple congenital anomalies to exclude chromosomal aberration.
Out of the included cases 100 cases had positive parental consanguinity (51 %).
64 cases out of 100 patients had no similar affected members in the family (64%).
44 cases of the 100 patients (44%) were part of a known recognizable syndrome and 23 cases (12%) were having chromosomal disorders and 25 cases (25%) were diagnosed with inborn errors of metabolism, and the other 8 cases (8%) were classified as other causes of genetic diseases.
Early detection of skeletal deformities in genetic syndromes and early intervention for prevention of complications if possible by medical treatment or even surgical eg in cases of apert syundrome with middle 3 fingers syndactly to undergoe surgery to repair syndactly to regain function of fingers. Also in cases with limited joint movement to start physiotherapy as early as possible to prevent contractures.
Genetic counseling is highly recommended. The counseling would help in avoiding the recurrence of such diseases and hence prevention through prenatal diagnosis if possible.