A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

We report on a consanguineous Pakistani family with a severe congenital microcephaly syndrome resembling the Seckel syndrome and Jawad syndrome. The affected individuals in this family were born to consanguineous parents of whom the mother presented with mild intellectual disability (ID), epilepsy and diabetes mellitus. The two living affected brothers presented with microcephaly, white matter disease of the brain, hyponychia, dysmorphic facial features with synophrys, epilepsy, diabetes mellitus and ID.

Anthropometric measurements as a risk for hypertensive disorders in pregnancy: a hospital based study in South Asian population.

Objective: To determine the relationship between pregnancy induced hypertensive diseases and obesity.

Methods: A retrospective case controlled study was performed at Aga Khan University Hospital including records from July 2000 to June 2005. All women developing hypertension with or without proteinuria after 20 weeks of pregnancy (n = 218) were included.

Acetabular morphometry and prevalence of hip dysplasia in the South Asian population.

We carried out a cross-sectional study to measure the association of the seven acetabular parameters with pelvic morphometry and prevalence of hip dysplasia in our population. Convenience sampling was carried out and 250 consecutive patients who came to AKUH for intravenous pyelogram and had no complaints in the region of the hip joint were enrolled in the study. Post-micturition standardized plain antero-posterior pelvic radiographs of 250 asymptomatic adults (500 hip joints) was studied.