Abstract
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.
Original language | English |
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Pages (from-to) | 434-438 |
Number of pages | 5 |
Journal | American journal of medical genetics |
Volume | 86 |
Issue number | 5 |
DOIs | |
State | Published - Oct 29 1999 |
Keywords
- Alkaline phosphatase
- Bone disease
- Bowing
- Campomelic dysplasia
- Prenatal diagnosis