Biomedical papers, 2016 (vol. 160), issue 2

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016, 160(2):310-315 | 10.5507/bp.2016.020

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

Ole Junga,b, Ralf Smeetsb, Henning Hankenb, Reinhard E. Friedrichb, Max Heilandb, Amir Tagnihaa, Brian Labowa
a Department of Plastic and Oral Surgery, Children´s Hospital Boston, Harvard Medical School, Boston, USA
b Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg, Hamburg, Germany

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.

Keywords: Oromandibular Limb Hypogenesis Syndromes (OLHS), Charlie M Syndrome, Oromandibular and limb hypogenesis malformations (OLHM)

Received: August 1, 2015; Accepted: April 8, 2016; Prepublished online: April 27, 2016; Published: June 24, 2016


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