Rare syndrome characterized by distinctive
malformations of vertebrae and ribs, leading to respiratory insufficiency
and death by 1 year of age.
Spondylocostal Dysostosis, Recessive form I;
Spondylothoracic Dysplasia; Costovertebral Dysplasia; Spondylothoracic
Genetic disorder first described by S. Jarcho and P.M.
Levin in 1938.
Can be caused by mutation in the DLL3 gene mapped
Clinical, with dwarfism and multiple anomalies of bones.
Infants present with short stature. Features involve
skeleton (scoliosis, lordosis, long limbs, short rib cage, vertebral segmentation
anomaly, prominent occiput, camptodactyly, syndactyly of fingers,
talipes-varus/valgus), head (short neck, low-set ears, anteverted nares, broad
nasal root, up-slanted fissures, long philtrum, broad forehead), and GI
(inguinal or umbilical hernia). Intrauterine growth retardation is frequent.
Cleft palate, macrocephaly, microcephaly, congenital cardiac anomaly,
cryptorchism, genital abnormality, and imperforate anus may occur.
Respiratory deficiency caused by thoracic anomalies. Pulmonary hypertension
has been described.
Evaluate respiratory function
(clinical, chest radiographs, pulmonary function tests, and arterial blood
gas analysis). Evaluate for the possibility of difficult airway management
because of the presence of a short neck and skull abnormality (clinical,
Careful intraoperative positioning is
needed. Tracheal intubation can be difficult and may require adapted
anesthetic technique. Postoperative mechanical ventilatory support can be
necessary. Regional anesthesia is not contraindicated but can be difficult
Muscle relaxants should be avoided
until airway is secured. Medication causing respiratory depression should be used carefully in the
postoperative period after evaluation of the respiratory function. Prophylactic
antibiotics must be considered in case of cardiopathy.
Hatakeyama K, Fuse S, Tomita H, et al: Jarcho-Levin syndrome associated
with a complex congenital heart anomaly. Pediatr Cardiol
Karnes PS, Day D, Berry SA, et al: Jarcho-Levin syndrome: Four new cases and
classification of subtypes. Am J Med Genet
Rastogi D, Rosenzweig EB, Koumbourlis A: Pulmonary hypertension in
Jarcho-Levin syndrome. Am J Med Genet