CASE REPORT Acromelia-oligodontia syndrome Jyothirmai Talasila 1 , Ramaswamy Pachigolla 1,a , Kiranmai V. S. N. Yarlagadda 2,b , Ramu Vuppala 1,c , Karl-Heinz Grzeschik 3 , Sai Kiran K.V.S 4,d , Catherine M. Rose 5 , Gary S. Gottesman 6,e & Zsolt Urban 7 1 Government Dental College and Hospital, Vijayawada, India 2 NTR University Health Sciences, Vijayawada, India 3 University of Marburg, Marburg, Germany 4 Gene Tech, Hyderabad, India 5 POSSUMweb, Victorian Clinical Genetics Service & Murdoch Childrens Research Institute, Parkville 3052, Australia 6 Saint Louis University School of Medicine, St. Louis, Missouri 7 Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania Correspondence Jyothirmai Talasila, 1621 Walpole Drive, Unit D, Chesterfield 63017, MO. Tel: 314-856-2386; Fax: 314-856-2386; E-mail: jyothirmaitalasila@gmail.com Present addresses a St. Joseph Dental College, Duggirala, Eluru, India b Cidar Rapids Psychiatry, Iowa City, Iowa c Shine Dental, Hobbs, New Mexico d Avigene, Hyderabad, India e Shriners Hospitals for Children-Saint Louis, Saint Louis, Missouri Funding Information University of Marburg, Germany, National Institutes of Health (HL090648). Received: 2 June 2016; Revised: 16 December 2016; Accepted: 5 March 2017 Clinical Case Reports 2017; 5(6): 968–974 doi: 10.1002/ccr3.956 Key Clinical Message This case report describes a patient with ankyloglossia, oligodontia, unilateral hypoplasia of the zygoma and mandible, along with bilateral distal reduction anomalies of his limbs without long bone abnormalities. This may represent a mild variant of oromandibular limb hypogenesis syndrome, expanding the phe- notypic spectrum, or a previously unrecognized malformation syndrome. Keywords Acromelia, ankyloglossia, oligodontia, oromandibular limb hypogenesis syndrome, orthopantomograph, pleiotropy Introduction Polymalformation syndromes can be caused by mutations in pleiotropic genes. Pleiotropy can result from defects in proteins with multiple biochemical functions. Alterna- tively, pleiotropic genes may be required for fundamental cellular functions necessary for the development of multi- ple tissues or organs [1]. For example, the neural crest gives rise to structures of the face, cardiac outflow tract, peripheral nervous system, and pigment cells. Thus, mutations in genes required for neural crest development cause multi-organ phenotypes [2]. Similarly, cilia are required for multiple developmental pathways and for the homeostasis of several organs. Therefore, defects in genes required for ciliary function lead to a range of diseases with either specific or broad systemic involvement [3]. Oral, facial, and distal limb anomalies have been described in a range of disorders, including oromandibular limb hypogenesis syndrome (OMLHS) [4] (also known as Hanhart syndrome, OMIM # 103300), oral–facial–digital syndrome (OFDS) [5] (OMIM # 311200), and other rarer malformation syndromes with distal limb deficiencies 968 ª 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.