Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?
Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entity.
Aalfs
C M
CM
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Oosterwijk
J C
JC
van Schooneveld
M J
MJ
Begeman
C J
CJ
Wabeke
K B
KB
Hennekam
R C
RC
D000015:Abnormalities, Multiple; D000328:Adult; D002386:Cataract; D005145:Face / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss; D006330:Heart Defects, Congenital; D006801:Humans; D007360:Intelligence; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities