Jarcho-Levin Syndrome

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 Dysostosis.

Genetic disorder first described by S. Jarcho and P.M. Levin in 1938.

Autosomal recessive.

Can be caused by mutation in the DLL3 gene mapped on 19q13.

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, radiographs).

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 to realize.

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.