Literature DB >> 27135013

Orofacial Manifestations of Autosomal Recessive Robinow's Syndrome: A Rare Case Report.

Santosh Mali1, Neha Bansal2, Amol Dhokar3, Monica Yadav4.   

Abstract

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.

Entities:  

Keywords:  Absent tongue tip; Foetal face; Missing tooth

Year:  2016        PMID: 27135013      PMCID: PMC4843398          DOI: 10.7860/JCDR/2016/16318.7469

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

1.  Robinow syndrome.

Authors:  S K Singh; S K Bhadada; R Singh; S K Sinha; S K Singh; J K Agrawal
Journal:  J Assoc Physicians India       Date:  2000-08

Review 2.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

3.  Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Authors:  A R Afzal; A Rajab; C D Fenske; M Oldridge; N Elanko; E Ternes-Pereira; B Tüysüz; V A Murday; M A Patton; A O Wilkie; S Jeffery
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

4.  Robinow syndrome.

Authors:  M L Kulkarni; Srikant Reddy
Journal:  Indian Pediatr       Date:  2004-01       Impact factor: 1.411

5.  Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Authors:  Juliana Forte Mazzeu; Eliete Pardono; Angela M Vianna-Morgante; Antônio Richieri-Costa; Chong Ae Kim; Décio Brunoni; Lúcia Martelli; Carlos Eugênio F de Andrade; Guilherme Colin; Paulo A Otto
Journal:  Am J Med Genet A       Date:  2007-02-15       Impact factor: 2.802

6.  Craniofacial and intraoral phenotype of Robinow syndrome forms.

Authors:  S Beiraghi; V Leon-Salazar; B E Larson; M T John; M L Cunningham; A Petryk; J L Lohr
Journal:  Clin Genet       Date:  2011-05-16       Impact factor: 4.438

7.  Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

Authors:  P N Kantaputra; R J Gorlin; N Ukarapol; K Unachak; J Sudasna
Journal:  Am J Med Genet       Date:  1999-05-07

8.  Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

Authors:  Parag M Tamhankar; Lakshmi Vasudevan; Shweta Kondurkar; K Yashaswini; Sunil Kumar Agarwalla; Mohandas Nair; T V Ramkumar; Nitin Chaubal; Vasundhara Sridhar Chennuri
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014
  8 in total

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