title: A case report on autosomal recessive Robinow syndrome.
abstract: BACKGROUND
  Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome.
  
  
  METHODS
  The patient was born to consanguineous parents and had anomalies typical of the recessive type of the syndrome such as short stature, mesomelic limb shortening, vertebral anomalies and dysmorphic facial features. Besides typical orodental findings, she also had root malformation in mandibular incisors, which is unusual finding of recessive type of Robinow syndrome. This case report emphasizes the importance of oral and dental manifestations of this syndrome.
authors.affiliation: Ege University, School of Dentistry, Department of Paediatric Dentistry, Bornova-Izmir, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Eronat
authors.forename: D
authors.initials: D
authors.lastname: Cogulu
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D005885:Gingival Hyperplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008334:Mandible; D013122:Spinal Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014092:Tooth Root / Q000002:abnormalities