Пренатальна доброякісна гіпофосфатазія
ORPHA:247638· ICD-10 E83.3· Prenatal benign hypophosphatasia
Визначення(English summary)
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Antenatal, Neonatal