Craniofacial and intraoral phenotype of Robinow syndrome forms

Clinical Genetics

Volumn 80, Issue 1, 2011, Pages 15-24

  Beiraghi, S ^a   Leon Salazar, V ^a,b   Larson, Be ^a   John, Mt ^b   Cunningham, Ml ^c,d   Petryk, A ^e,f   Lohr, Jl ^e,f  

^a Department of Developmental and Surgical Sciences ^*  (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF MINNESOTA   (United States)

^f UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Craniofacial anomaly; Dwarfism; Genetics; Robinow syndrome

Indexed keywords

ADOLESCENT; ADULT; AGED; ALVEOLAR RIDGE; ALVEOLAR RIDGE DEFORMATION; ANKYLOGLOSSIA; ARTICLE; AUTOSOMAL DOMINANT ROBINOW SYNDROME; AUTOSOMAL RECESSIVE ROBINOW SYNDROME; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINODACTYLY; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DWARFISM; FEMALE; GINGIVA HYPERPLASIA; GINGIVA HYPERTROPHY; HEART MURMUR; HUMAN; HYPERTELORISM; HYPODONTIA; MALE; MALOCCLUSION; MICROGNATHIA; MICROPENIS; MIDFACE HYPOPLASIA; MOUTH MALFORMATION; NAIL DYSPLASIA; PHENOTYPE; PHOTOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; ROBINOW SYNDROME; SCHOOL CHILD; SCOLIOSIS; SKULL MALFORMATION;

ADOLESCENT; ADULT; AGED; CHILD; DWARFISM; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MAXILLOFACIAL ABNORMALITIES; MIDDLE AGED; MOUTH ABNORMALITIES; PHENOTYPE; SKULL; SPINE;

EID: 79958145415     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01683.x     Document Type: Article

References (21)

1. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child 1969: 117 (6): 645-651.
2. Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol 1993: 2 (3): 189-198.
3. 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.
4. 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.
5. Teebi AS. Autosomal recessive Robinow syndrome. Am J Med Genet 1990: 35 (1): 64-68.
6. Patton MA, Afzal AR. Robinow syndrome. J Med Genet 2002: 39 (5): 305-310.
7. 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.
8. 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.
9. 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.
10. Grothe R, Anderson-Cermin C, Beiraghi S. Autosomal recessive Robinow syndrome: a case report. J Dent Child (Chic) 2008: 75 (1): 48-54.
11. Person AD, Beiraghi S, Sieben CM et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 2010: 239 (1): 327-337.
12. 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.
13. 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.
14. Aase JM. Diagnostic dysmorphology. New York, NY: Plenum Medical Book Co., 1990.
15. 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.
16. 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.
17. 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.
18. 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.
19. Saraiva JM, Cordeiro I, Santos HG. Robinow syndrome in monozygotic twins with normal stature. Clin Dysmorphol 1999: 8 (2): 147-150.
20. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. New York, NY: Oxford University Press, 2001.
21. 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.