A Cornelia De Lange Syndrome Patient with Cleft Palate: A Case Report with Intraoral and Extraoral Findings

Abstract

Objective: This case report presents the clinical and genetic findings in a one-week-old male patient with Cornelia de Lange Syndrome (CdLS) and unilateral cleft palate with a review of literature which includes case reports with cleft lip and palate. Case Presentation: The patient exhibited characteristic facial dysmorphism, including a low-set hairline, long and bushy unibrow, inclined nose with anteverted nostrils, long philtrum, thin lips, and micrognathia. Upper limb malformations, genitourinary anomalies, and hirsutism were also present. The patient underwent comprehensive follow-up for five months, during which an alginate impression was taken to aid intraoral feeding, and a plaster model was prepared for the construction of an obturator, an essential component of the cleft palate management plan. The treatment plan involved multidisciplinary collaboration, including pre-surgical orthodontic preparation, evaluation of dental anomalies, surgical intervention with an oral and maxillofacial surgeon, post-operative care, and monitoring. Post-surgical orthodontic treatment and speech therapy were planned for later stages, followed by fine-tuning and a retention plan for long-term stability. Conclusion: CdLS is a complex genetic disorder characterized by various physical abnormalities. This case report demonstrated the management of a one-week-old male patient with CdLS and unilateral cleft palate through a comprehensive multidisciplinary approach. Early intervention, personalized treatment plans, and long-term follow-up are crucial for addressing dental and maxillofacial complications associated with cleft palate in CdLS patients. Collaborative efforts among specialists yield optimal outcomes, improving the quality of life for individuals with CdLS and cleft palate. Keywords: cornelia de lange, cleft palate, cleft lip