The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.
We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001938:Brazil; D002648:Child; D003241:Consanguinity; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D009132:Muscles / Q000002:abnormalities*; D009915:Orbit / Q000002:abnormalities; D013577:Syndrome