Pauli R M, Modaff P, Sipes S L, Whyte M P
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.
Am J Med Genet. 1999 Oct 29;86(5):434-8. doi: 10.1002/(sici)1096-8628(19991029)86:5<434::aid-ajmg8>3.0.co;2-c.
We describe a fifth instance of hypophosphatasia presenting with prenatal findings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenatally. The postnatal course has been encouraging. This sixth clinical form of hypophosphatasia, which we suggest should be called the benign prenatal form of hypophosphatasia, should be added to the differential diagnostic possibilities considered when angulation or bowing of long bones is discovered prenatally.
我们描述了第五例低磷性骨软化症，其产前检查结果提示存在非常严重的骨发育异常，但随后病程呈良性。长骨成角畸形在产前即开始自发改善。产后病程令人鼓舞。我们建议将这种低磷性骨软化症的第六种临床类型称为低磷性骨软化症的良性产前型，当产前发现长骨成角或弯曲时，应将其纳入鉴别诊断的考虑范围。
