Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.
birth defects
micromelia
skeletal dysplasia
thanatophoric dysplasia
Journal
Annals of medicine and surgery (2012)
ISSN: 2049-0801
Titre abrégé: Ann Med Surg (Lond)
Pays: England
ID NLM: 101616869
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
24
07
2023
accepted:
17
09
2023
medline:
2
11
2023
pubmed:
2
11
2023
entrez:
2
11
2023
Statut:
epublish
Résumé
Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be diagnosed antenatally as early as 13 weeks of gestation. The authors reported a case of thanatophoric dysplasia on USG in a 19 year old young consanguineous female in her second trimester of pregnancy. Ultrasound examination showed a clover leaf-shaped skull, a widened anterior fontanel, a coarse and edematous face, a flattened nasal bridge, a short neck, a low set of ears, shortening of both upper and lower limbs with short fingers, bowed thighs and legs, and a relatively narrow thorax. Lung hypoplasia, polyhydramnios, and hydrops in affected individuals lead to a poor prognosis. Hence, timely intervention should be done to avoid a poor prognosis. However, a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis. The authors reported this case due to the rarity of this condition and the need for a systematic and multidisciplinary approach.
Identifiants
pubmed: 37915702
doi: 10.1097/MS9.0000000000001356
pii: AMSU-D-23-01588
pmc: PMC10617885
doi:
Types de publication
Journal Article
Langues
eng
Pagination
5785-5788Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors declare that they have no financial conflict of interest with regard to the content of this report.
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