Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. American journal of medical genetics [Am J Med Genet] Journal article | | Title | Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. | | Author(s) | Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R | | Institution | Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb | | Source | Am J Med Genet 2001 Jan 22; 98(3):244-9. | | MeSH | Abnormalities, Multiple
Adult
Cataract
DNA
Family Health
Female
Genotype
Hearing Loss, Sensorineural
Humans
Male
Mental Retardation
Microcephaly
Microsatellite Repeats
Middle Aged
Pedigree
Retinitis Pigmentosa
Review Literature
Scalp Dermatoses
Syndrome
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Research Support, Non-U.S. Gov't
| | PubMed ID | 11169562 |
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