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Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Clinical genetics - 1 Aug 2012

Akawi N A, Al-Gazali L, Ali B R

Abstract excerpt

Fibrochondrogenesis is documented to be a neonatally lethal rare recessively inherited disorder characterized by short-limbed skeletal dysplasia. Here we report two patients from two unrelated consanguineous Emirati families who have unexpectedly survived till the ages of 3 and 6 years. These patients show additional symptoms which include developmental delay, profound sensory-neural deafness, severe myopia and...

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PMID: 21668896
DOI: 10.1111/j.1399-0004.2011.01734.x

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