Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report.

Abstract

Introduction: Upper extremity deformation may come in isolation, such as polydactyly, or be associated with a syndrome involving other body parts. Cornelia de Lange syndrome (CDLS) is a syndrome encompassing many abnormalities with some variation and a spectrum of severity. This case report presents a case of a baby with suspected CDLS.

Case presentation: A 28-year-old woman, Gravida 3 Para 2, came to the polyclinic referred because of her small gestational age and a possibility of congenital abnormality. The ultrasound examination showed upper extremity malformation with hypoplasia of the left radius and ulna, right ulna, agenesis of the right ulna, intrauterine growth restriction, and polyhydramnios. An elective Caesarean section was performed at 37 weeks of gestational age due to two previous Caesarean sections. Baby girl was born at 1446 g, with a body length of 39 cm and an Apgar score of 6/8. The baby had some features of CDLS, such as thick eyebrows, a short nose, a concave nasal ridge, a long indistinct philtrum, and a distinct upper extremity malformation.

Discussion: CDLS was characterized by prenatal growth retardation, microcephaly, craniofacial abnormalities, hand or foot malformation, and hirsutism in the face. Prenatally, CDLS has some distinctive features in ultrasound, such as fetal growth retardation, craniofacial abnormalities, and limb malformation. CDLS has a broad spectrum of clinical presentation; its prognosis may vary based on the abnormality and the symptoms caused.