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Брахіолмія, тип Марото

ORPHA:93302· ICD-10 Q76.3· Brachyolmia, Maroteaux type

Визначення(English summary)

A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood