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Тімяні отвори з гіпоплазією ключиці

ORPHA:251290· ICD-10 Q74.0· Parietal foramina with clavicular hypoplasia

Визначення(English summary)

A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal