Craniofacial and intraoral phenotype of Robinow syndrome forms
Beiraghi S, Leon‐Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteri...
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Published in | Clinical genetics Vol. 80; no. 1; pp. 15 - 24 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
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Oxford, UK
Blackwell Publishing Ltd
01.07.2011
Wiley-Blackwell |
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ISSN | 0009-9163 1399-0004 1399-0004 |
DOI | 10.1111/j.1399-0004.2011.01683.x |
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Abstract | Beiraghi S, Leon‐Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms.
Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome.
Section Editor: Albert E. Chudley, email: achudley@hsb.mb.ca |
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AbstractList | Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. Section Editor: Albert E. Chudley, email: achudleysb.mb.caOriginal Abstract: Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome.Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. [PUBLICATION ABSTRACT] Section Editor: Albert E. Chudley, email: achudley@hsb.mb.ca Beiraghi S, Leon‐Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. Section Editor: Albert E. Chudley, email: achudley@hsb.mb.ca |
Author | John, MT Larson, BE Petryk, A Beiraghi, S Lohr, JL Cunningham, ML Leon-Salazar, V |
Author_xml | – sequence: 1 givenname: S surname: Beiraghi fullname: Beiraghi, S email: beira001@umn.edu organization: Department of Developmental and Surgical Sciences – sequence: 2 givenname: V surname: Leon-Salazar fullname: Leon-Salazar, V organization: Department of Developmental and Surgical Sciences – sequence: 3 givenname: BE surname: Larson fullname: Larson, BE organization: Department of Developmental and Surgical Sciences – sequence: 4 givenname: MT surname: John fullname: John, MT organization: Department of Diagnostic and Biological Sciences, University of Minnesota School of Dentistry, Minneapolis, MN, USA – sequence: 5 givenname: ML surname: Cunningham fullname: Cunningham, ML organization: Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA, USA – sequence: 6 givenname: A surname: Petryk fullname: Petryk, A organization: Department of Genetics, Cell Biology and Development, University of Minnesota College of Biological Sciences, Minneapolis, MN, USA – sequence: 7 givenname: JL surname: Lohr fullname: Lohr, JL organization: Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, MN, USA |
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Keywords | Human Dwarfism Oral cavity Phenotype Diseases of the osteoarticular system Genetics Anomaly Craniofacial Robinow syndrome craniofacial anomaly Osteochondrodysplasia |
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References_xml | – reference: van Bokhoven H, Celli J, Kayserili H et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 2000: 25 (4): 423-426. – reference: Schwabe GC, Tinschert S, Buschow C et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet 2000: 67 (4): 822-831. – reference: Israel H, Johnson GF. Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. J Craniofac Genet Dev Biol 1988: 8 (1): 63-73. – reference: Minami Y, Oishi I, Endo M, Nishita M. Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases. Dev Dyn 2010: 239 (1): 1-15. – reference: Mazzeu JF, Pardono E, Vianna-Morgante AM et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A 2007: 143 (4): 320-325. – reference: Saraiva JM, Cordeiro I, Santos HG. Robinow syndrome in monozygotic twins with normal stature. Clin Dysmorphol 1999: 8 (2): 147-150. – reference: Aase JM. Diagnostic dysmorphology. New York, NY: Plenum Medical Book Co., 1990. – reference: Giedion A, Battaglia GF, Bellini F, Fanconi G. The radiological diagnosis of the fetal-face (=Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases. Helv Paediatr Acta 1976: 30 (4-5): 409-423. – reference: Kelly TE, Benson R, Temtamy S, Plotnick L, Levin LS. The Robinow syndrome: an isolated case with a detailed study of the phenotype. Am J Dis Child 1975: 129 (3): 383-386. – reference: Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol 1993: 2 (3): 189-198. – reference: Patton MA, Afzal AR. Robinow syndrome. J Med Genet 2002: 39 (5): 305-310. – reference: Schwabe GC, Trepczik B, Suring K et al. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev Dyn 2004: 229 (2): 400-410. – reference: Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child 1969: 117 (6): 645-651. – reference: Person AD, Beiraghi S, Sieben CM et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 2010: 239 (1): 327-337. – reference: Cerqueira DF, de Souza IP. Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008: 105 (3): 353-357. – reference: Teebi AS. Autosomal recessive Robinow syndrome. Am J Med Genet 1990: 35 (1): 64-68. – reference: Grothe R, Anderson-Cermin C, Beiraghi S. Autosomal recessive Robinow syndrome: a case report. J Dent Child (Chic) 2008: 75 (1): 48-54. – reference: Al Kaissi A, Bieganski T, Baranska D et al. Robinow syndrome: report of two cases and review of the literature. Australas Radiol 2007: 51 (1): 83-86. – reference: Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. New York, NY: Oxford University Press, 2001. – reference: Brunetti-Pierri N, Del Gaudio D, Peters H et al. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A 2008: 146A (21): 2804-2809. – reference: Afzal AR, Rajab A, Fenske CD et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet 2000: 25 (4): 419-422. – volume: 2 start-page: 189 issue: 3 year: 1993 end-page: 198. article-title: The Robinow (fetal face) syndrome: a continuing puzzle. publication-title: Clin Dysmorphol – volume: 30 start-page: 409 issue: 4–5 year: 1976 end-page: 423. article-title: The radiological diagnosis of the fetal‐face (=Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases. publication-title: Helv Paediatr Acta – volume: 25 start-page: 423 issue: 4 year: 2000 end-page: 426. article-title: Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. publication-title: Nat Genet – volume: 229 start-page: 400 issue: 2 year: 2004 end-page: 410. article-title: Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. publication-title: Dev Dyn – volume: 8 start-page: 147 issue: 2 year: 1999 end-page: 150. article-title: Robinow syndrome in monozygotic twins with normal stature. publication-title: Clin Dysmorphol – volume: 51 start-page: 83 issue: 1 year: 2007 end-page: 86. article-title: Robinow syndrome: report of two cases and review of the literature. publication-title: Australas Radiol – volume: 75 start-page: 48 issue: 1 year: 2008 end-page: 54. article-title: Autosomal recessive Robinow syndrome: a case report. publication-title: J Dent Child (Chic) – year: 2001 – volume: 35 start-page: 64 issue: 1 year: 1990 end-page: 68. article-title: Autosomal recessive Robinow syndrome. publication-title: Am J Med Genet – volume: 146A start-page: 2804 issue: 21 year: 2008 end-page: 2809. article-title: Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. publication-title: Am J Med Genet A – volume: 117 start-page: 645 issue: 6 year: 1969 end-page: 651. article-title: A newly recognized dwarfing syndrome. publication-title: Am J Dis Child – volume: 8 start-page: 63 issue: 1 year: 1988 end-page: 73. article-title: Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. publication-title: J Craniofac Genet Dev Biol – volume: 239 start-page: 1 issue: 1 year: 2010 end-page: 15. article-title: Ror‐family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases. publication-title: Dev Dyn – volume: 143 start-page: 320 issue: 4 year: 2007 end-page: 325. article-title: Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. publication-title: Am J Med Genet A – volume: 239 start-page: 327 issue: 1 year: 2010 end-page: 337. article-title: WNT5A mutations in patients with autosomal dominant Robinow syndrome. publication-title: Dev Dyn – volume: 39 start-page: 305 issue: 5 year: 2002 end-page: 310. article-title: Robinow syndrome. publication-title: J Med Genet – volume: 105 start-page: 353 issue: 3 year: 2008 end-page: 357. article-title: Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient. publication-title: Oral Surg Oral Med Oral Pathol Oral Radiol Endod – year: 1990 – volume: 129 start-page: 383 issue: 3 year: 1975 end-page: 386. article-title: The Robinow syndrome: an isolated case with a detailed study of the phenotype. publication-title: Am J Dis Child – volume: 67 start-page: 822 issue: 4 year: 2000 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Snippet | Beiraghi S, Leon‐Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms.
Robinow... Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic... Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow... |
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SubjectTerms | Adolescent Adult Aged Alveoli Biological and medical sciences Child craniofacial anomaly Crowding Differential diagnosis Diseases of the osteoarticular system dwarfism Dwarfism - genetics Dwarfism - pathology Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic disorders genetics Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Heredity Humans Limb Deformities, Congenital - genetics Limb Deformities, Congenital - pathology Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Maxillofacial Abnormalities - genetics Maxillofacial Abnormalities - pathology Medical diagnosis Medical genetics Medical sciences Middle Aged Molecular and cellular biology Morphology Mouth Abnormalities - genetics Mouth Abnormalities - pathology Phenotype Robinow syndrome Skull - abnormalities Spine - abnormalities Spine - pathology |
Title | Craniofacial and intraoral phenotype of Robinow syndrome forms |
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