The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).
Eur J Pediatr
; 132(1): 55-9, 1979 Sep.
Article
em En
| MEDLINE
| ID: mdl-91515
ABSTRACT
A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60--80 dB hearing loss). The genetic aspects of the syndrome are discussed.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Epífises
/
Face
/
Cabelo
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Pediatr
Ano de publicação:
1979
Tipo de documento:
Article