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.

Jarcho-Levin syndrome - spondylocostal dysostosis - pregnancy - inguinoscrotal hernia

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