|
CLASSIFICATION OF
JARCHO-LEVIN SYNDROME
|
- Classification based on mode
of inheritance or extent of clinical involvement (1,2).
- Classification based on
phenotypic appearance (3):
- Spondylocostal
dysostosis.
- Autosomal recessive,
more common in Puerto Ricans.
- Vertebral and rib
cage malformations.
- Absence of crablike
rib configuration. Ribs are fused posteriorly in a fan-like pattern
without intrinsic malformation (may have decreased number).
- Better prognosis
although varying degrees of disability are common.
- Spondylothoracic
dysostosis.
- Autosomal dominant
(sometimes recessive).
- Usually in
Caucasians.
- Crablike rib configuration
+ posterior tethering. Irregular size and shape.
- Grave prognosis and
early development of respiratory insufficiency.
- Spine
- Hemivertebrae and
fused vertebrae in both.
- Lordosis in 2(a) and
scoliosis in 2(b).
- Long bones - Normal in
both types.
- Amniotic fluid -
Normal in both types.
- Hernias in both types,
neural defects in type 2(a) and anal anomalies in type 2(b).
Some workers (4) have failed to indicate any
radiological difference between two lethal and and eight non-lethal cases and
conclude that a pessimistic approach should not automatically be associated
with a spondylothoracic dysostosis-like radiographic appearance.
- Castroviejo IP,
Rodreques-Costa TR, Castillo F. Spondylothoracic dysplasia in three
sisters. Dev Med Child Neurol 1973;15:348-354.
- Heilbronner DM, Renshaw TS.
Spondylothoracic dysplasia. J Bone Joint Surg 1984;66A:302-303.
- Karnes PS, Day D, Berry SA
et.al. Jarcho-Levin syndrome: four new cases and classification of
subtypes. Am J Med Genet 1991;40:264-270.
- Herald HZ, Edlitz M, Baruchin
A. Spondylothoracic dysplasia: a report of ten cases with follow up. Spine
1988;13:478-481.
- Wong G, Levine D.
Jarcho-Levin syndrome syndrome: two consecutive pregnancies in a Puerto
Rican couple. Ultrasound Obstet Gynecol 1998;12:70-73.