A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.
Int J Immunopathol Pharmacol
; 19(2): 439-42, 2006.
Article
en En
| MEDLINE
| ID: mdl-16831310
ABSTRACT
We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Colesterol
/
Síndrome de Smith-Lemli-Opitz
Límite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Int J Immunopathol Pharmacol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
FARMACOLOGIA
/
PATOLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Italia