alexa Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome
Orthopaedics

Orthopaedics

Clinical Research on Foot & Ankle

Author(s): Boudhina T, Yedes A, Khiari S, Ghram N, Ben Becher S

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We report the observations of three sisters with the same autosomal recessive syndrome characterized bygrowth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among other family members. This syndrome is one of the many neurocutaneous syndromes and does not seem to fit any of the previously published descriptions.

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This article was published in Annals of Pediatric and referenced in Clinical Research on Foot & Ankle

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