Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.
Spondyloepiphyseal dysplasia congenita is a form of primary short dwarfism, that is manifest at birth generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007233:Infant, Postmature; D007234:Infant, Premature; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000150:complications / Q000000981:diagnostic imaging* / Q000401:mortality; D011247:Pregnancy; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications