A Case of Platyspondylic Lethal Skeletal Dysplasia Torrance Type
Neonatal Medicine
;
: 44-48, 2018.
Article
Dans Coréen
| WPRIM
| ID: wpr-741654
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Examen physique
/
Bras
/
Insuffisance respiratoire
/
Thorax
/
Poids de naissance
/
Développement osseux
/
Prématuré
/
Césarienne
/
Dépistage génétique
Type d'étude:
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Bébé
/
Nouveau-né
/
Grossesse
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Neonatal Medicine
Année:
2018
Type:
Article
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