Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001842:Bone and Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome