Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.
BMC Pregnancy Childbirth
; 24(1): 420, 2024 Jun 10.
Article
en En
| MEDLINE
| ID: mdl-38858685
ABSTRACT
BACKGROUND:
Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years. CASE PRESENTATION A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.CONCLUSION:
The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ultrasonografía Prenatal
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Deformidades Congénitas de las Extremidades
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Anomalías Craneofaciales
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Imagenología Tridimensional
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Cara
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Agenesia del Cuerpo Calloso
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Hidrocefalia
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
BMC Pregnancy Childbirth
Asunto de la revista:
OBSTETRICIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China