Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation.
J Ultrasound Med
; 37(4): 1033-1037, 2018 Apr.
Article
em En
| MEDLINE
| ID: mdl-28960390
ABSTRACT
There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders. Other congenital diarrhea disorder cases have presented with similar prenatal US findings. As a result of these associations, we suggest considering IPEX syndrome as a potential cause of fetal bowel anomalies, particularly with a known family history. However, continued research into the phenotypic and genotypic correlations for IPEX syndrome is likely needed to better understand this possible prenatal presentation.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Ultrassonografia Pré-Natal
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Doenças Genéticas Ligadas ao Cromossomo X
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Diabetes Mellitus Tipo 1
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Diarreia
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Fatores de Transcrição Forkhead
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Doenças do Sistema Imunitário
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Infant
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Male
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Newborn
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Pregnancy
Idioma:
En
Revista:
J Ultrasound Med
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos