Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types, which were designated as type 1 and type 2. Type 1 ATD was characterized by the presence of radiologically irregular metaphyseal ends and histopathologically irregular cartilage bone junction with patchy distribution of physeal zone of hypertrophy. Type 2 ATD showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junctions. Examination of four patients with the "Verma-Naumoff" short rib-polydactyly syndrome showed many radiologic and pathologic features similar to those of type 1 ATD. Differential diagnosis of these three osteochondrodysplasias is discussed along with chondroectodermal dysplasia (Ellis-van Creveld), short rib-polydactyly syndrome type 1 (Saldino-Noonan), short rib-polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported by Beemer et al [1983].
D001238:Asphyxia Neonatorum / Q000145:classification* / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000145:classification* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification* / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D009626:Terminology as Topic; D013909:Thorax / Q000002:abnormalities*