Osteocraniostenosis

Definition:

Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. It has been reported that individuals with GCLEB had mutations in FAM111A.

References:

[1]. Jessica L Nyholm, et al. Slender bone dysplasia (gracile). Am J Med Genet A. 2008 Dec 15;146A(24):3234-6. [Content Brief]

[2]. Sheila Unger, et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet. 2013 Jun 6;92(6):990-5. [Content Brief]

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