The association of common atrium with smith-lemli-opitz syndrome in an infant

Küçük Resim Yok

Tarih

2008

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect is found in half of the Smith-Lemli-Opitz syndrome patients. To our knowledge, the association of common atrium and Smith-Lemli-Opitz syndrome has not been described before in the medical literature. We present a 4-month-old infant case of such association.

Açıklama

Anahtar Kelimeler

Common atrium, Infant, Smith-Lemli-Opitz syndrome

Kaynak

Marmara Medical Journal

WoS Q Değeri

Scopus Q Değeri

Q4

Cilt

21

Sayı

3

Künye