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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

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Mégarbané, André | Hana, Sayeeda | Mégarbané, Hala | Castro, Christel | Baulande, Sylvain | Criqui, Audrey | Roëckel-Trevisiol, Nathalie | Dagher, Christel | Al-Ali, Mahmoud Taleb | Desvignes, Jean-Pierre | Mahfoud, Daniel | El-Hayek, Stephany | Delague, Valérie

Edité par CCSD ; Karger -

International audience. We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in IRX5 in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

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