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Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple
Author(s) -
Wong G.,
Levine D.
Publication year - 1998
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1998.12010070.x
Subject(s) - medicine , dysplasia , rib cage , prenatal diagnosis , pregnancy , fetus , pediatrics , obstetrics , anatomy , pathology , genetics , biology
This report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form of Jarcho‐Levin syndrome (spondylothoracic dysplasia). This syndrome, with multiple vertebral and rib malformations, leads to respiratory insufficiency and early neonatal death. The prenatal sonographic appearance is characterized by the presence of fanned‐out ribs from fused thoracic vertebral bodies. The features that distinguish spondylothoracic dysplasia and another subtype of Jarcho‐Levin syndrome, spondylocostal dysplasia, are discussed. Prenatal diagnosis allows for parental counselling and the possibility of termination of pregnancy if the lethal type of spondylothoracic dysplasia is diagnosed prior to fetal viability. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology