A case report on autosomal recessive Robinow syndrome
| Autor: | Eronat, N., Cogulu, D., Özkınay, Ferda |
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| Přispěvatelé: | Ege Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Bone Diseases
Developmental Robinow syndrome Tooth Abnormalities Autosomal recessive ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS Limb Deformities Congenital Facies Genes Recessive Mandible Syndrome Dental findings Craniofacial Abnormalities Incisor Consanguinity ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ComputingMethodologies_PATTERNRECOGNITION Gingival Hyperplasia Humans Abnormalities Multiple Female Spinal Diseases Tooth Root InformationSystems_MISCELLANEOUS Child |
| Popis: | WOS: 000269599100009 PubMed ID: 19761290 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. Case report 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. |
| Databáze: | OpenAIRE |
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