[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome]. / Wady wrodzone ukladu moczowo-plciowego u dzieci z zespolem Smitha-Lemlego-Opitza.
Wiad Lek
; 51 Suppl 3: 129-33, 1998.
Article
em Pl
| MEDLINE
| ID: mdl-9814122
ABSTRACT
Smith-Lemli-Opitz (SLO) syndrome is an autosomal, recessive condition. The essence of SLO is abnormal metabolism of cholesterol which is characterized by decreased level of cholesterol and increased level of 7-dihydrocholesterol in serum. The main clinical features are mental retardation and congenital malformations of various organs and systems--microcephaly, syndactyly, craniofacial anomalies, cleft palate and genitourinary system, mainly external genitalia. We analyzed the group of 12 children (2 girls and 10 boys) treated due to SLO in The Children's Memorial Health Institute since 1982 to 1997. In boys we diagnosed penile curvature; hypospadia without hypospadias; glandular, penile and scrotal hypospadia, undescended; hydrocele testis; mild unilateral hydronephrosis and in girls we reported moderate hypertrophy of clitoral preputium and stenosis of external urethral meatus. The surgical treatment was planned.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Urogenitais
/
Síndrome de Smith-Lemli-Opitz
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
Pl
Revista:
Wiad Lek
Assunto da revista:
MEDICINA
Ano de publicação:
1998
Tipo de documento:
Article