A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.

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.

authors

Domizio S,Pallotta R,Romanelli A,Puglielli C,Pollice R,Casacchia M,Conte E,Domizio R,Sabatino G

doi

10.1177/039463200601900220

subject

Has Abstract

pub_date

2006-04-01 00:00:00

pages

439-42

issue

2

eissn

0394-6320

issn

2058-7384

pii

20

journal_volume

19

pub_type

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