ABSTRACT
Growth deficiency is the term that describes a growth rate below the appropriate growth velocity for age. Normal stature varies widely among ethnic groups and within each ethnic group approximating a normal distribution. Short stature may be proportionate or disproportionate. Children with proportionate short stature may have more generalized disorders. The aim of the present work was to study the phenotypic variations in patients with proportionate growth deficiency, and to evaluate the diagnosis to provide accurate genetic counseling. The study included 53 patients with proportionate growth deficiency from those attending the Human Genetics Clinic, Medical Research Institute, Alexandria University, during a four years period. They were subjected to a complete genetic and family history, pedigree analysis, complete genetic examination, ant hropometric measurements, cytogentic analysis and others investigations when needed. The results showed that group I consisted of 17 cases [32.07%] with chromosomal anomalies [7 cases with numerical aberrations and 10 cases had structural anomalies], group II included 21 patients [39.62%] with single gene disorders [11 patient had autosomal dominant disorders. 9 cases with autosomal recessive diseases and only I case with X-linked recessive disorder]. Group Ill consisted of the sporadic syndromes [11 cases; 20.75%] and the last group had disorders due to teratogens [4 cases; 7.56%]. It is essential that a specific diagnosis should be made because there are hundreds of causes for growth deficiency that have differing prognoses, complications and responses to treatments