Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus

• المؤلفون الرئيسيون: André Travessa (مؤلف), Patrícia Dias (مؤلف), Pedro Rocha (مؤلف), Ana Berta Sousa (مؤلف)
• التنسيق: كتاب
• منشور في: Elsevier, 2017-08-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. Case report: A 28-year-old woman, gravida 1...