title: An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
abstract: The short rib-polydactyly (SRP) group are lethal skeletal dysplasias with an autosomal recessive inheritance pattern that can be distinguished on radiological and histological grounds. We report on two consecutive pregnancies complicated by a SRP syndrome with acromesomelic hypomineralization and campomelia that cannot be definitely categorized, yet possesses features of this group of conditions. The skeletal changes observed in both cases included markedly shortened ribs, shortened humeri and femora, limb bowing, absent ossification of the radii, ulnae, tibiae and fibulae, as well as the bony elements of the hands and feet, hypoplastic scapulae and peritoneal calcifications. In one case, the pancreas was abnormal in shape, without a tail and the spleen was not identified. Ectopic splenic tissue and intestinal malrotation were identified and were suggestive of a laterality disorder. Whether these two cases should be considered an atypical form of SRP cannot be completely resolved at this present time and will need to wait on further progress in molecular testing.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: Kannu
authors.forename: Jeannette H
authors.initials: JH
authors.lastname: McFarlane
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000473:pathology*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D017689:Polydactyly / Q000473:pathology*; D011247:Pregnancy; D011248:Pregnancy Complications; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000473:pathology*; D035781:Siblings