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

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

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

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

Am J Med Genet. 2001 Jan 22;98(3):244-9. doi: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w.

Authors

A Mégarbané¹, N Waked, E Chouery, Y B Moglabey, N Saliba, E Mornet, J L Serre, R Slim

Affiliation

¹ Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. [email protected]

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

Abstract

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 syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Adult
Cataract / pathology*
DNA / genetics
Family Health
Female
Genotype
Hearing Loss, Sensorineural / pathology*
Humans
Intellectual Disability / pathology*
Male
Microcephaly / pathology*
Microsatellite Repeats
Middle Aged
Pedigree
Retinitis Pigmentosa / pathology*
Review Literature as Topic
Scalp Dermatoses / pathology*
Syndrome

Substances

DNA