Prenatal sonographic diagnosis of Malpuech syndrome.

Abstract

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome.

• Authors: Clare Turnbull, Melissa Lees, Lyn S Chitty
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 26 Issue 12 Pg. 1121-3 (Dec 2006) ISSN: 0197-3851 [Print] England
• PMID: 17019743 (Publication Type: Case Reports, Journal Article)
• Copyright: 2006 John Wiley & Sons, Ltd.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Cleft Lip (pathology)
• Cleft Palate (pathology)
• Face (abnormalities)
• Family
• Female
• Fetal Diseases (diagnostic imaging)
• Growth Disorders (etiology)
• Humans
• Infant
• Infant, Newborn
• Karyotyping
• Male
• Pregnancy
• Syndrome
• Ultrasonography, Prenatal