Al-Gazali Syndrome

Clinical Features

Al-Gazali et al. (1994) reported 2 sibs, born of consanguineous Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and early lethality. Al-Gazali et al. (1999) described 2 additional sibs, from a highly inbred Palestinian family, with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye, and early lethality. They suggested autosomal inheritance of the disorder in both families.

Thong et al. (2005) reported 2 sibs, born of second-cousin Malaysian parents, with multiple skeletal abnormalities, anterior segment anomalies of the eye, and early lethality. The parents' reproductive history included 3 spontaneous abortions, 1 male stillbirth, and 4 male live births. Of the 4 live births, only 2 were affected with clinical features of al-Gazali syndrome. The affected boys had intrauterine growth retardation, bilateral talipes equinovarus, contractures of the large joints, camptodactyly, multiple fractures, and abnormalities of the anterior segment of the eyes. Each died within the first year of life, one at 7 months and the second at 1 month.

Inheritance

The transmission pattern of the disorder in the families reported by al-Gazali et al. (1994, 1999) was consistent with autosomal recessive inheritance.