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J Korean Pediatr Soc. 2002 Feb;45(2):273-277. Korean. Case Report.
Kang MN , Lim IS , Kim BE , Chey MJ , Kim SW .
Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea. kangmina@orgio.net
Abstract

Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.

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