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Mutations in the FIG4 gene cause Yunis-Varon syndrome. Cleidocranial dysplasia (absent clavicles, macrocrania, diastasis of sutures), absent thumbs and distal phalanges of fingers, micrognathia ...
Cleidocranial Dysplasia (CCD): A heritable skeletal disorder characterised by underdeveloped or absent clavicles, delayed closure of cranial sutures, and dental abnormalities. RUNX2: A ...
The original family included an affected mother and son. 10 The 4-year-old boy showed large paired parietal defects and abnormal clavicles, with hypoplasia of the lateral (acromial) ends and ...