“Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones.
Inheritance may be autosomal recessive, autosomal dominant, or sporadic.
Chromosomes are normal.
Delivery should occur in a tertiary center due to increased likelihood of respiratory complications.
No longer considered to be a lethal condition.
All affected individuals are developmentally normal.
Jarcho–Levin syndrome is an eponym that refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. The name Jarcho–Levin syndrome was attached to the condition because of an initial report in 1938 by Saul Jarcho and Paul Levin who described a brother and sister with severe malformations of their vertebral columns. In addition, the mother of these children had a minor cervical vertebral anomaly. The infants demonstrated a shortened thorax and a prominent abdomen. Both infants died from respiratory failure during the first year of life.
Subsequently, the classification of genetic syndromes that include rib and vertebral anomalies as their major symptoms has become progressively more confusing. Jarcho and Levin’s original disorder was termed “hereditary malformation of the vertebral bodies.” Related or identical conditions have also been called familial dwarfism due to hereditary multiple hemivertebrae, spondylothoracic dysostosis, spondylocostal dysplasia, spondylocostal dysostosis, costovertebral dysplasia, and occipito-facial-cervical-thoracic-abdominal-digital dysplasia. The nosology of these various conditions is further complicated by the fact that some of them are inherited as autosomal dominant genes and some are associated with autosomal recessive inheritance (Table 96-1). The condition that most clinicians agree is the classical presentation of Jarcho–Levin syndrome is spondylothoracic dysplasia, and consists of multiple rib and vertebral anomalies associated with a “crab-claw” or “fanlike” configuration of the ribs on X-ray (Figures 96-1 and 96-2), with a resultant small thoracic volume and symptoms coincident with respiratory insufficiency. The majority of patients who manifest the classic Jarcho–Levin syndrome can trace their ancestry to Puerto Rico (Perez-Comas and Garcia-Castro, 1974).
Table 96-1Clinical and Genetic Features in the Jarcho–Levin Spectrum |Favorite Table|Download (.pdf) Table 96-1 Clinical and Genetic Features in the Jarcho–Levin Spectrum
| ||Spondylothoracic Dysplasia or Dysostosis (STD) ||Spondylocostal Dysplasia or Dysostosis (SCD) |
|Sonographic Findings |
|Ribs ||Fused posteriorly creating “crablike” or “fan” appearance; no intrinsic malformations ||Intrinsic malformations |
|Spine ||Hemivertebrae ||Hemivertebrae |
| ||Fused vertebrae ||Fused vertebrae |
| ||Lordosis ||Scoliosis |
|Long bones ||Normal ||Normal |
|Inheritance pattern ||Autosomal recessive ||Autosomal dominant or autosomal recessive |
|Causative gene ||Unknown but linkage analysis maps gene to chromosome 2q32.1 ||Delta-like 3 (DLL3) on chromosome 19q13 |
Anteroposterior radiograph of a newborn with Jarcho–Levin syndrome, demonstrating deformation of chest with characteristic “crab-claw” appearance.
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