Perinatology.  2018 Dec;29(4):185-188. 10.14734/PN.2018.29.4.185.

Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

• Lee CY
• Lee NM
• Yi DY
• Yun SW
• Chae SA
• Lim IS
• Kim GJ

• KMID: 2430223
• DOI: http://doi.org/10.14734/PN.2018.29.4.185

Abstract

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

Keyword

Jarcho-Levin syndrome; Prenatal diagnosis; Scoliosis; Ultrasonography

MeSH Terms

Arnold-Chiari Malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Counseling
Humans
Hydrocephalus
Inheritance Patterns
Karyotype
Meningomyelocele
Neural Tube Defects
Parents
Pregnancy
Prenatal Diagnosis
Scoliosis
Ultrasonography

Figure

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  Fig. 1 Three-dimensional posterior image of the affected fetus at 14 weeks of gestation. (A) Kyphoscoliosis of the spine. (B) Absence of the T10 and T11 ribs in the left lateral thoracic cage.

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  Fig. 2 Gross and computed tomography (CT) images of the infant. (A) The infant has a short neck, accessory nipples, and abnormal rib cage on the left side. (B) Three-dimensional spinal CT shows left T1, T2, and T10 hemivertebrae and a fusion anomaly in T6 and T7, with lateral wedging and scoliosis of the thoracic spine with convexity to the right. (C) Chest anteroposterior image shows dextrocardia and abnormal rib cage on the left side.

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