Moore C A, Curry C J, Henthorn P S, Smith J A, Smith J C, O'Lague P, Coburn S P, Weaver D D, Whyte M P
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Am J Med Genet. 1999 Oct 29;86(5):410-5. doi: 10.1002/(sici)1096-8628(19991029)86:5<410::aid-ajmg3>3.0.co;2-0.
We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects. Recognition of this presentation for hypophosphatasia by family investigation and assessment of the fetal skeleton for degree of ossification and chest size using ultrasonography is important. The prognosis for this condition is considerably better than for more severe forms of hypophosphatasia and for many other disorders that cause skeletal defects with long bone bowing in utero.
我们描述了两个家族中的四例妊娠情况，其中轻度低磷酸酯酶症显然以常染色体显性性状遗传，在子宫内表现为严重的长骨弯曲。出生后，骨骼缺陷有自发改善。通过家族调查以及使用超声检查评估胎儿骨骼的骨化程度和胸部大小来识别这种低磷酸酯酶症表现很重要。这种病症的预后比更严重形式的低磷酸酯酶症以及许多其他在子宫内导致骨骼缺陷并伴有长骨弯曲的病症要好得多。
