Autosomal recessive craniometaphyseal dysplasia.
D000293:Adolescent; D000886:Anthropometry; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree