PRENATAL ULTRASONOGRAPHIC DESCRIPTION AND POSTNATAL PATHOLOGICAL FINDINGS IN ATELOSTEOGENESIS TYPE-1

Atelosteogenesis type 1 (AO1) is a rare lethal chondrodysplasia charac terized by incomplete ossification of cartilage anlagen, Histologicall y, the cartilage contains irregular clusters that occasionally include giant chondrocytes. Pulmonary hypoplasia is a characteristic finding that has been presumed to be the cause of neonatal lethality. We repor t on a male fetus with AO1 and document the early ultrasonographic/ ra diologic progression of this disorder from 15 weeks gestation until de livery at 41 weeks. While the radiological findings are describe are t ypical of AO1 by the lack of proximal and middle phalangeal ossificati on, the complete radiological picture showed considerable overlap with boomerang dysplasia, Although pulmonary hypoplasia was present, it wa s moderate and considered unlikely to be the sole cause of death. Deta iled neonatal and postmortem examination showed severe subglottic hypo plasia and tracheomalacia. The tracheal walls were supported by thin a nd pliable cartilaginous plates that allowed luminal collapse with min imal pressure. The marked luminal narrowing, tracheomalacia, and tempo ral proximity of extubation to demise support tracheal collapse as a m ajor contributor to the death in AO1, The detailed description of this patient should contribute to earlier diagnosis of this condition; ant icipation of the poor prognosis in AO1 is essential for appropriate ge netic counseling of the parents and for determining postnatal treatmen t options. Am. J, Med, Gen, 79: 392-395, 1998, (C) 1998 Wiley Liss, In c.