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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.

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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