A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes

• Main Authors: Ole Jung, Ralf Smeets, Henning Hanken, Reinhard E. Friedrich, Max Heiland, Amir Tagniha, Brian Labow
• Format: Article
• Language: English
• Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2016-06-01
• Series: Biomedical Papers
• Subjects: oromandibular limb hypogenesis syndromes (olhs); charlie m syndrome; oromandibular and limb hypogenesis malformations (olhm)
• Online Access: https://biomed.papers.upol.cz/artkey/bio-201602-0020_A_patient_with_Charlie_M_Syndrome_Differential_diagnosis_of_Oromandibular_Limb_Hypogenesis_Syndromes.php
• ISSN: 1213-8118; 1804-7521

Aim: In order to provide adequate treatment to a patient with a subtype of Oromandibular Limb Hypogenesis Syndromes (OLHS), this study aimed to review and to analyze the current literature and treatment options of OLHS. Methods: Literature review in PubMed and Sciencedirect. Due to the small number of results, all available references were analyzed precisely. Results: Cases of OLHS are formerly rare and often incomplete. There are various classifications available, which, however, often seem confusing and are of little practical relevance. Furthermore, we present a complete case report of a patient with Charlie M syndrome, a type IV (Chicarilli)/ V (Hall) OLHS malformation. We also describe embryologic pathogenesis and differential diagnoses. Conclusion: As a result of our literature review, we recommend an adjusted classification for OLHS.