Thanatophoric Skeletal Dysplasia: A Case Report.
oligohydramnios; Potter Sequence; Potter’s facies; pulmonary hypoplasia.
Journal
JNMA; journal of the Nepal Medical Association
ISSN: 1815-672X
Titre abrégé: JNMA J Nepal Med Assoc
Pays: Nepal
ID NLM: 0045233
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
entrez:
30
4
2020
pubmed:
30
4
2020
medline:
6
5
2021
Statut:
ppublish
Résumé
Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
185-187Références
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