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Мезомелічна дисплазія, тип Саваріраяна

ORPHA:85170· ICD-10 Q78.8· Mesomelic dysplasia, Savarirayan type

Визначення(English summary)

Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.

Поширеність
Unknown
Успадкування
Not applicable
Вік початку
Infancy, Neonatal