Suri Mohnish, Garrett C, Winter R M, Hall C M, Griffiths M
Clinical Genetics Service, City Hospital, Nottingham, UK.
Clin Dysmorphol. 2002 Oct;11(4):267-70. doi: 10.1097/00019605-200210000-00007.
We report a fetus from a pregnancy that was terminated at 26 weeks gestation for hydrops and short limb skeletal dysplasia. The parents were first cousins. Post mortem examination showed pulmonary hypoplasia and hepatomegaly. The radiographs showed shortening and cortical thickening of all long bones. The cortical thickening was most marked in the long bones, ribs, clavicles and scapulae but spared the skull vault, facial bones and pelvis. There were coronal clefts in the lower lumbar vertebrae. The clinical and radiological features of this fetus conform to those reported in a stillborn male by Kozlowski and Tsuruta in 1989 (Br J Radiol 62:376-378). This is the second reported case of this condition and confirms that it is a distinct and recognisable, lethal skeletal dysplasia. The parental consanguinity in our patient suggests that this condition may be inherited in an autosomal recessive manner.
我们报告了一例妊娠26周时因水肿和短肢骨骼发育不良而终止妊娠的胎儿。父母为近亲。尸检显示肺发育不全和肝肿大。X线片显示所有长骨缩短和皮质增厚。皮质增厚在长骨、肋骨、锁骨和肩胛骨中最为明显，但颅顶、面骨和骨盆未受累。下腰椎有冠状裂。该胎儿的临床和放射学特征与1989年Kozlowski和Tsuruta报道的一名死产男婴相符（《英国放射学杂志》62:376 - 378）。这是该病症报道的第二例病例，证实其为一种独特且可识别的致死性骨骼发育不良。我们患者的父母近亲关系表明该病症可能以常染色体隐性方式遗传。
