1.
Clin Dysmorphol
; 5(2): 93-103, 1996 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8723559
RESUMO
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.
Assuntos
Anormalidades Múltiplas , Catarata , Face/anormalidades , Perda Auditiva , Cardiopatias Congênitas , Inteligência , Crânio/anormalidades , Anormalidades Dentárias , Adulto , Feminino , Humanos , Síndrome
2.
Transplant Proc
; 26(2): 497, 1994 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8171522