Severe skeletal dysplasia caused by a novel FLNB gene mutation.
BMJ Case Rep
; 17(3)2024 Mar 07.
Article
em En
| MEDLINE
| ID: mdl-38453218
ABSTRACT
A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Linfangioma Cístico
/
Doenças Fetais
Limite:
Adolescent
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
BMJ Case Rep
/
BMJ case reports
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos