Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report
Andrew Pratama Kurniawan, Gatot Abdurrazak, Aidrus Abdul Muthalib, Rachmat Dediat Kapnosa Hasani · 2026
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Description
Kurniawan and colleagues present a 2026 case of a baby girl with suspected Cornelia de Lange syndrome. The condition shapes growth, the face, and the limbs before birth. A twenty-eight-year-old mother was referred during pregnancy because her baby measured small. Ultrasound showed shortened forearm bones in both arms, slow growth, and excess fluid around the baby.
An elective caesarean at thirty-seven weeks delivered a girl weighing 1,446 grams. She showed the syndrome's facial signs, including thick eyebrows, a short nose with a sunken bridge, and a long, smooth groove above the lip, alongside the arm malformations. The authors review how such limb findings on prenatal ultrasound can point to the syndrome early. They stress that its severity varies widely, so prognosis depends on which organs and symptoms a given child has.
Catalog record
| CREATOR | Andrew Pratama Kurniawan, Gatot Abdurrazak, Aidrus Abdul Muthalib, Rachmat Dediat Kapnosa Hasani |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |