Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 45 10 2016 12 14 1359 1366 Masoud DEHGHAN TEZERJANI Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Reza MAROOFIAN Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK Mohammad Yahya VAHIDI MEHRJARDI Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran AND Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Barry A. CHIOZA Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK Shiva ZAMANINEJAD Faculty of Dentistry, Golestan Uinversity of Medical Sciences, Gorgan, Iran Seyed Mehdi KALANTAR Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran AND Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Mahmoud NORI-SHADKAM Dept. of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Hamidreza GHADIMI Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran Emma L. BAPLE Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK Andrew H. CROSBY Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK Mohammadreza DEHGHANI Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran AND Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran 2016 10 23 2016 10 23 Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far.  Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality. In this study, we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically, the sibling had oral, facial and brain abnormalities, whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus.   https://ijph.tums.ac.ir/index.php/ijph/article/view/8076 https://ijph.tums.ac.ir/index.php/ijph/article/download/8076/5584