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Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report
Andrew Pratama Kurniawan1, Gatot Abdurrazak2, Aidrus Abdul Muthalib2
1Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia, ui.ac.id.
Case Reports in Obstetrics and Gynecology
|August 1, 2026
Summary
This case report details a suspected case of Cornelia de Lange syndrome (CDLS) in a newborn presenting with significant upper extremity malformations and characteristic facial features. Early identification of CDLS is crucial for managing its complex and variable clinical presentation.
Area of Science:
- Medical Genetics
- Pediatrics
- Developmental Biology
Background:
- Upper extremity malformations can occur independently or as part of a syndrome.
- Cornelia de Lange syndrome (CDLS) is a complex genetic disorder with a wide spectrum of severity and associated abnormalities.
Purpose of the Study:
- To present a case report of a neonate with suspected Cornelia de Lange syndrome (CDLS).
- To highlight the prenatal and postnatal features suggestive of CDLS, particularly upper extremity malformations.
Main Methods:
- Case report detailing a pregnancy with suspected fetal abnormalities.
- Ultrasound examination to assess fetal growth and malformations.
- Postnatal evaluation of the neonate for features consistent with CDLS.
Main Results:
- The fetus exhibited intrauterine growth restriction, polyhydramnios, and upper extremity malformations including hypoplasia and agenesis.
- The neonate presented with features suggestive of CDLS, such as characteristic facial anomalies and limb malformations.
Conclusions:
- Cornelia de Lange syndrome (CDLS) presents with a diverse range of clinical manifestations, including prenatal growth retardation and limb malformations.
- Prenatal ultrasound can identify distinctive features of CDLS, aiding in early diagnosis and management planning.
