ORIGINAL ARTICLESBony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathiasVerloes, A.a b; Raoul, M.a; Genevieve, D.a; Sznajer, Y.a; Demarche, M.c; Lombet, J.d; Rigo, V.d; Misson, J.P.e; Collignon, L.f; Vanwijck, F.g; Vanwijck, R.hAuthor Information aClinical Genetic Unit bINSERM E9935, Hôpital Robert Debré, Paris, France Department of cPediatric Surgery dNeonatology eNeuropediatrics fRadiology, Hôpital La Citadelle, Liège, Belgium gENT hPlastic Surgery Departments, Cliniques Universitaires Saint Luc, Brussels, Belgium Correspondence and requests for reprints to Professor Alain Verloes, Service de Génétique Clinique, Hôpital Robert Debré, 48 boulevard Sérurier, 75019 Paris cedex 19, France Tel: +33 1 40 03 53 41; fax: +33 1 40 03 53 44; e-mail: firstname.lastname@example.org Received 6 December 2003 Accepted 14 April 2004 Clinical Dysmorphology: October 2004 - Volume 13 - Issue 4 - p 205-211 Buy Abstract Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-adactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder. © 2004 Lippincott Williams & Wilkins, Inc.