Cornelia de lange syndrome: a recognizable fetal phenotype
F A Wilmink1, D N M Papatsonis, E W M Grijseels
1Department of Obstetrics and Gynecology, Amphia Hospital, Breda, Erasmus Medical Center, Rotterdam, The Netherlands.
Fetal Diagnosis and Therapy
|October 10, 2009
Summary
Cornelia de Lange syndrome can be suspected in the second trimester via ultrasound. Early diagnosis is possible through genetic testing and identifying characteristic fetal features.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Developmental Biology
Background:
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder.
- It is characterized by distinctive facial features, growth retardation, and limb malformations.
- Early and accurate diagnosis is crucial for management and genetic counseling.
Observation:
- A fetus diagnosed with CdLS at 21 weeks gestation presented with growth retardation, diaphragmatic hernia, cystic hygroma, and oligodactyly.
- Prenatal ultrasound identified these anomalies.
- Postnatal MRI and genetic testing confirmed the diagnosis.
Findings:
- A truncating mutation in the NIPBL gene was identified, confirming the CdLS diagnosis.
- The study highlights the presence of typical CdLS phenotype early in fetal development.
- Prenatal diagnosis in the second trimester is feasible.
Implications:
- This case demonstrates the utility of prenatal ultrasound in identifying key features of CdLS.
- Genetic confirmation via NIPBL gene mutation analysis is vital.
- Early prenatal suspicion and diagnosis can inform pregnancy management and parental decision-making.
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