Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia.

Abstract

Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gestation. Upon evaluation, fetal vertebral wedging and kyphoscoliosis were confirmed with the addition of thoracic circumference below 3rd percentile, short thorax length, and mild pyelectasis. During follow-up, in utero inguinoscrotal hernia developed. Prenatal diagnosis of SCD is important to provide appropriate genetic counseling and to have an adequate setting for the delivery of the fetus.

• Authors: Ahmet Basaran, Ozgür Deren, Lütfü S Onderoğlu
• Journal: American journal of perinatology (Am J Perinatol) Vol. 27 Issue 3 Pg. 189-92 (Mar 2010) ISSN: 1098-8785 [Electronic] United States
• PMID: 19634089 (Publication Type: Case Reports, Journal Article)
• Copyright: Thieme Medical Publishers.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Adult
• Dwarfism (diagnostic imaging)
• Female
• Fetal Diseases (diagnostic imaging)
• Hernia, Inguinal (diagnostic imaging)
• Humans
• Kyphosis (diagnostic imaging)
• Pregnancy
• Ribs (abnormalities, diagnostic imaging)
• Spine (abnormalities, diagnostic imaging)
• Syndrome
• Ultrasonography, Prenatal (methods)