A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.
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.
Domizio
S
S
Neonatal Intensive Care Unit, University G. D'Annunzio, Ospedale Policlinico, Via dei Vestini 5, 66100 Chieti, Italy.
Pallotta
R
R
Romanelli
A
A
Puglielli
C
C
Pollice
R
R
Casacchia
M
M
Conte
E
E
Domizio
R
R
Sabatino
G
G
D000328:Adult; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood* / Q000235:genetics; D002791:Cholesterol, Dietary / Q000627:therapeutic use; D005145:Face / Q000002:abnormalities; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D005317:Fetal Growth Retardation / Q000473:pathology; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000178:diet therapy / Q000378:metabolism / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology
D002791:Cholesterol, Dietary; D002784:Cholesterol