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Case Report
  |   Neonatal Med_25_1_44_48.pdf
Neonatal Med February;25(1):44-48.
Published online 2018 February 28
Copyright ⓒ 2018 Neonatal Medicine Neonatal Medicine
A Case of Platyspondylic Lethal Skeletal Dysplasia Torrance Type
Sung Chan Lee, and Min Seon Choi
Department of Pediatrics, Chosun University College of Medicine, Gwangju, Korea
Corresponding Author: Min Seon Choi , Tel: +82-62-220-3053 , Fax: +82-62-227-2904 , Email: mschoi@chosun.ac.kr
ABSTRACT
Platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), is one of the phenotypes of type II collagenopathy and is characteristic of severe bone growth disorder. This phenotype may limit the growth and expansion of the lungs, which is known to cause death from respiratory failure during or shortly after birth, but in few less severe cases, patients have been reported to have survived to adulthood. We have experienced a case of PLSD-T in a preterm infant who was delivered via cesarean section at the gestational age of 29 weeks 3 days, with a birth weight of 1.15 kg. Physical examination of the infant revealed characteristic findings of short arms and legs, small thorax, distended abdomen, and cleft palate. On the basis of the subsequent genetic testing, the patient had a heterozygous mutation in the encoded c-propeptide region of collagen, type II, alpha 1 (COL2A1), c.4335G>A (p.Trp1445*) in exon 52. This is the first case of PLSD-T diagnosed in Korea, and we hereby report the case.
Keywords: Platyspondylic lethal skeletal dysplasia, Torrance type, PLSD-T, Type II collagen, COL2A1
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