Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
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.
Mégarbané
A
A
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Waked
N
N
Chouery
E
E
Moglabey
Y B
YB
Saliba
N
N
Mornet
E
E
Serre
J L
JL
Slim
R
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002386:Cataract / Q000473:pathology*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000473:pathology*; D012196:Review Literature as Topic; D012536:Scalp Dermatoses / Q000473:pathology*; D013577:Syndrome
D004247:DNA