Kosin Med J.  2018 Jun;33(1):117-121. 10.7180/kmj.2018.33.1.117.

Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

Affiliations
  • 1Department of Pediatrics, College of Medicine, Kosin University, Busan, Korea. hasaohjung@hanmail.net

Abstract

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).

Keyword

Cri-du-chat syndrome; Hypoplasia; Pons; Premature

MeSH Terms

Cri-du-Chat Syndrome*
Cytogenetic Analysis
Gestational Age
Humans
Hypertelorism
Infant, Newborn
Infant, Premature*
Karyotype
Karyotyping
Magnetic Resonance Imaging
Micrognathism
Pons
Respiration
Ventilation
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