Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.
We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group.
Al-Nemri
A R
AR
Department of Pediatrics, Division of Neonatal-Perinatal Medicine, King Khaled University Hospital-King Saud University, Riyadh, Saudi Arabia.
Kilani
R A
RA
Salih
M A
MA
Al-Ajlan
A A
AA
D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D017809:Fatal Outcome; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly; D018233:Rhabdomyosarcoma, Embryonal / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D013909:Thorax