A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet.
Three brothers with a constitutional skeletal dysplasia characterized by an excessively retarded ossification, principally of the epiphyses, the pelvis, the hands and the feet, are reported. In the hands and feet the retarded ossification is combined with an abnormal modeling of the bones. All the children appeared normal at birth. At the time of examination a moderate degree of dwarfism could be predicted. There was no mental retardation. All laboratory investigations including chromosomal analyses and examination for acid mucopolysaccharides in the urine were normal. Parental consanguinity suggest an autosomal recessive inheritance. There is no resemblance of this disorder to any of the hitherto described groups of constitutional diseases of bones.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002648:Child; D003241:Consanguinity; D003718:Denmark; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D014421:Turkey / Q000208:ethnology