Miething R, Stöver B, Tuengerthal S, Winterling D, Svejcar J
Radiologe. 1981 Apr;21(4):190-4.
Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.
关于2例节段性侏儒症的报告，这是一种罕见的致死性侏儒症。两名男性新生儿在出生后立即因窒息死亡。其特征为第一内脏弓畸形（皮埃尔 - 罗宾综合征）、所有四肢畸形（弯曲性短肢畸形）和脊柱严重畸形（椎骨不等称），其中脊柱变化是主要的鉴别诊断特征。除此之外，这些畸形是由于软骨内成骨缺陷所致；该疾病推测为常染色体隐性遗传。
