Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome?
Two brothers with very similar phenotypes involving trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias are described. They have similar, distinctive facial features with deep-set eyes, a high nasal bridge and a short philtrum. Both brothers are carriers of a maternally inherited apparently balanced translocation of chromosomes 11 and 18: 46,XY, t(11;18)(p13;q21)mat. However, this is thought to be coincidental, since their younger brother also carries this translocation and is phenotypically normal. Although they have many features that are found in the ectodermal dysplasia syndromes, their combination of features is distinct and has to our knowledge not been previously reported.
Hill
C J
CJ
Institute of Medical Genetics Cardiff Eye Unit, University Hospital of Wales, Heath Park, Cardiff, Wales, UK Department of Dermatology, Llandough Hospital, Penlan Rd, Llandough, Vale of Glamorgan, Wales, UK.
Lane
C M
CM
Long
C
C
Clarke
A
A
Pilz
D T
DT
D000293:Adolescent; D000505:Alopecia / Q000473:pathology*; D004774:Entropion / Q000473:pathology*; D005145:Face / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008297:Male; D012535:Scalp / Q000473:pathology*; D035781:Siblings; D013285:Strabismus / Q000473:pathology; D013577:Syndrome