Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Clinical Features
In an inbred Mennonite sibship, Casamassima et al. (1981) described 2 brothers with severe vertebral and costal dysplasia of the type variously called spondylothoracic dysplasia, costovertebral dysplasia, or the Jarcho-Levin syndrome (277300). By x-ray, the thorax has a crab-like configuration. The association of anal atresia, single umbilical artery, and urogenital anomalies suggested that this is a distinct entity.
Simpson et al. (1995) described spondylothoracic dysostosis in 2 successively conceived fetuses; both had severe congenital heart disease in addition to the characteristic skeletal malformations.
Daikha-Dahmane et al. (1998) described a fetus with craniofacial anomalies, narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects seen on roentgenographic examination included absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion.
CytogeneticsThe patient described by Daikha-Dahmane et al. (1998) carried an apparently balanced translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may indicate a locus for this autosomal recessive thoracic dysplasia.