Chromosomal and genetic forms of primary skeletal short stature

ABSTRACT

Fifty patients [25 males and 25 females with age ranging between three months and 18 years] with primary skeletal short stature were chosen for genetic assessment. Personal [prenatal and natal] and family histories were taken including those of abortions and stillbirths. The patients were clinically examined and their head circumference, weight and heights [US/LS] were measured. Karyotype, skeletal surveys, hormonal, biochemical and metabolic assays were carried out. The results showed that 17 cases had a growth failure associated with chromosomal aberrations, 12 cases suffered from inborn errors of metabolism, 11 cases had osteochondrodysplasias, while those associated with syndromes constituted ten cases. Consanguinity was present in 62%, similar cases in the family in 34%, history of abortions in 40%, disproportion in 30% and subnormal mentality in 72%