A New Case of a LUMBAR Syndrome

作者:Golabi Mahin; An Andrew C*; Lopez Christina; Lee Lauren; Kwong Michael; Hall Bryan D
来源:American Journal of Medical Genetics, Part A, 2014, 164(1): 204-207.
DOI:10.1002/ajmg.a.36215

摘要

LUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies. Since 1986, 53 cases have been reported and no etiology has been identified. We report on the 54th case in a male infant and review the literature concerning the manifestations of the LUMBAR syndrome.

  • 出版日期2014-1