Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report
Robinow’s syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and rece...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2016-03-01
|
| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/7469/16318_CE[Ra]_F(Sh)_PF1(VSUAK)_PFA(AK)_PF2(PAG).pdf |
| _version_ | 1811264031578652672 |
|---|---|
| author | Santosh Mali Neha Bansal Amol Dhokar Monica Yadav |
| author_facet | Santosh Mali Neha Bansal Amol Dhokar Monica Yadav |
| author_sort | Santosh Mali |
| collection | DOAJ |
| description | Robinow’s syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed
dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with
autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive
form of Robinow’s syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis
and dental management of this patient. |
| first_indexed | 2024-04-12T19:56:54Z |
| format | Article |
| id | doaj.art-b4c60e2a73c44b358c10fe6ce9f03476 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-04-12T19:56:54Z |
| publishDate | 2016-03-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-b4c60e2a73c44b358c10fe6ce9f034762022-12-22T03:18:39ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2016-03-01103ZD09ZD1010.7860/JCDR/2016/16318.7469Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case ReportSantosh Mali0Neha Bansal1Amol Dhokar2Monica Yadav3Lecturer, Department of Oral Medicine and Radiology, Terna Dental College and Hospital, Navi Mumbai, Maharashtra, India.Assistant Professor, Department of Oral Medicine and Radiology, Government Dental College, Aurangabad, Maharashtra, India. Professor and Head of Department, Department of Oral Medicine and Radiology, Terna Dental College and Hospital, Navi Mumbai, Maharashtra, India.Professor and Head of Department, Department of Oral Pathology, Terna Dental College and Hospital, Navi Mumbai, Maharashtra, India.Robinow’s syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow’s syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient.https://jcdr.net/articles/PDF/7469/16318_CE[Ra]_F(Sh)_PF1(VSUAK)_PFA(AK)_PF2(PAG).pdfabsent tongue tipfoetal facemissing tooth |
| spellingShingle | Santosh Mali Neha Bansal Amol Dhokar Monica Yadav Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report Journal of Clinical and Diagnostic Research absent tongue tip foetal face missing tooth |
| title | Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report |
| title_full | Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report |
| title_fullStr | Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report |
| title_full_unstemmed | Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report |
| title_short | Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report |
| title_sort | orofacial manifestations of autosomal recessive robinow s syndrome a rare case report |
| topic | absent tongue tip foetal face missing tooth |
| url | https://jcdr.net/articles/PDF/7469/16318_CE[Ra]_F(Sh)_PF1(VSUAK)_PFA(AK)_PF2(PAG).pdf |
| work_keys_str_mv | AT santoshmali orofacialmanifestationsofautosomalrecessiverobinowssyndromeararecasereport AT nehabansal orofacialmanifestationsofautosomalrecessiverobinowssyndromeararecasereport AT amoldhokar orofacialmanifestationsofautosomalrecessiverobinowssyndromeararecasereport AT monicayadav orofacialmanifestationsofautosomalrecessiverobinowssyndromeararecasereport |