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Neonatal Med. 2017 May;24(2):88-91. English. Case Report. https://doi.org/10.5385/nm.2017.24.2.88
Kim EJ , Chung SH , Park TS , Choi YS .
Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea. feelhope@khu.ac.kr
Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Abstract

Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.

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