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Article

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

American journal of medical genetics - 22 Jan 2001

Mégarbané A, Waked N, Chouery E, Moglabey Y B, Saliba N, Mornet E, Serre J L, Slim R

Abstract excerpt

We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new...

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PMID: 11169562
DOI: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w

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