Alagille syndrome. A case report.
Acta Derm Venereol
; 70(6): 521-3, 1990.
Article
in En
| MEDLINE
| ID: mdl-1981431
ABSTRACT
A 5-year-old physically and mentally retarded female child born of non-consanguineous parents, who had had disseminated skin lesions for 4 1/2 years, is presented. She had persistent neonatal jaundice associated with clay-coloured stools and generalized pruritus which receded by the age of 2 years. Examination revealed characteristic facies, moderate hepatosplenomegaly, cardiac murmur and widespread smooth yellow papules and nodules on ears, trunk, bony prominences and palms. Ophthalmic examination revealed corneal opacities. Liver function tests and lipidogram were abnormal. A diagnosis of Watson-Alagille Syndrome was made on the basis of characteristic facies, xanthomatosis and cholestatic jaundice.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Diseases
/
Cholestasis, Intrahepatic
/
Xanthogranuloma, Juvenile
/
Face
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Acta Derm Venereol
Year:
1990
Document type:
Article
Affiliation country:
India
Publication country:
SE
/
SUECIA
/
SUÉCIA
/
SWEDEN