Parietal foramina with clavicular hypoplasia

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Name:
Parietal foramina with clavicular hypoplasia
Description:
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.
ORPHAcode:
251290
Synonyms:
Parietal foramina with cleidocranial dysplasia
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14