Puri Ratna D, Thakur Seema, Verma I C
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Indian J Pediatr. 2007 Nov;74(11):995-1002. doi: 10.1007/s12098-007-0183-y.
Severe skeletal dysplasias are a group of bone growth disorders characterized by a lethal outcome in utero or infancy. We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period.
We evaluated 15 cases with short limbed dwarfism, of which 13 fetuses were examined after termination of pregnancy and two were evaluated postnatally.
Short rib dysplasia syndromes with or without polydactyly, osteogenesis imperfecta type II, thanatophoric dysplasia, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed.
Precise identification of the tye of skeletal dysplasia is paramount for proper genetic counseling. Postnatal examination and detailed radiographic examination of the fetus especially of the pelvis, limbs, skull and spine are essential to identify the type of skeletal dysplasia.
严重骨骼发育不良是一组骨骼生长障碍，其特征是在子宫内或婴儿期出现致命结局。我们描述了在一家三级中心进行的为期五年的胎儿尸检中诊断出严重骨骼发育不良的经验。
我们评估了15例短肢侏儒症病例，其中13例胎儿在终止妊娠后接受检查，2例在出生后进行评估。
诊断出的致命骨骼发育不良包括伴有或不伴有多指畸形的短肋发育不良综合征、II型成骨不全、致死性骨发育不全、弯肢性发育不良、点状软骨发育不良、肢根型和软骨发育不全。
准确识别骨骼发育不良的类型对于进行适当的遗传咨询至关重要。对胎儿进行出生后检查和详细的放射学检查，尤其是骨盆、四肢、颅骨和脊柱的检查，对于确定骨骼发育不良的类型至关重要。
