Neonatal Med.  2018 Feb;25(1):44-48. 10.5385/nm.2018.25.1.44.

A Case of Platyspondylic Lethal Skeletal Dysplasia Torrance Type

• Lee SC
• Choi MS

• KMID: 2405615
• DOI: http://doi.org/10.5385/nm.2018.25.1.44

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.

Keyword

Platyspondylic lethal skeletal dysplasia; Torrance type; PLSD-T; Type II collagen; COL2A1

MeSH Terms

Abdomen
Arm
Birth Weight
Bone Development
Cesarean Section
Cleft Palate
Collagen Type II
Exons
Female
Genetic Testing
Gestational Age
Humans
Infant
Infant, Newborn
Infant, Premature
Korea
Leg
Lung
Parturition
Phenotype
Physical Examination
Pregnancy
Respiratory Insufficiency
Thorax
Collagen Type II