An osteosclerotic form of robinow syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2638-2642

  Bunn, Kieran J ^a   Lai, Angeline ^b   Al Ani, Azza ^c   Farella, Mauro ^c   Craw, Susan ^d   Robertson, Stephen P ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d DUNEDIN HOSPITAL   (New Zealand)

Author keywords

Hyperosteosis; Oligodontia; Osteosclerosis; Robinow syndrome

Indexed keywords

ALKALINE PHOSPHATASE;

ADENOIDECTOMY; ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BONE DENSITY; BONE MALFORMATION; BONE RADIOGRAPHY; BRACHYDACTYLY; CAMPTODACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CRYPTORCHISM; DUAL ENERGY X RAY ABSORPTIOMETRY; FACE DEFORMITY; FEMALE; HEAD CIRCUMFERENCE; HUMAN; MALE; NEWBORN; OLIGODONTIA; ORCHIDOPEXY; ORCHIECTOMY; OSTEOSCLEROSIS; OTITIS MEDIA; PERCEPTION DEAFNESS; ROBINOW SYNDROME; SCHOOL CHILD; YOUNG ADULT; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DWARFISM; FACE; GENETICS; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CRANIOFACIAL ABNORMALITIES; DWARFISM; FACE; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; OSTEOSCLEROSIS; PHENOTYPE; UROGENITAL ABNORMALITIES;

EID: 84908233827     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36677     Document Type: Article

References (18)

1. Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. 2000a. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet 106:351-354.
2. Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. 2000b. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet 25:419-422.
3. Bain MD, Winter RM, Burn J. 1986. Robinow syndrome without mesomelic 'brachymelia': A report of five cases. J Med Genet 23:350-354.
4. Baron R, Kneissel M. 2013. WNT signaling in bone homeostasis and disease: From human mutations to treatments. Nat Med 19:179-192.
5. Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. 2011. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet 80:15-24.
6. Butler MG, Wadlington WB. 1987. Robinow syndrome: Report of two patients and review of literature. Clin Genet 31:77-85.
7. Eijkenboom DF, Verbist BM, Cremers CW, Kunst HP. 2012. Bilateral conductive hearing impairment with hyperostosis of the temporal bone: A new finding in Robinow syndrome. Arch Otolaryngol Head Neck Surg 138:309-312.
8. Kelly TE, Benson R, Temtamy S, Plotnick L, Levin S. 1975. The Robinow syndrome: An isolated case with a detailed study of the phenotype. Am J Dis Child 129:383-386.
9. Little RD, Carulli JP, DelMastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML. 2002. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant highbone-mass trait. Am J Hum Genet 70:11-19.
10. Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. 2007. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet Part A 143A:320-325.
11. Oishi I, Suzuki H, Onishi N, Takada R, Kani S, Ohkawara B, Koshida I, Suzuki K, Yamada G, Schwabe GC, Mundlos S, Shibuya H, Takada S, Minami Y. 2003. The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells 8:645-654.
12. Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. 2010. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 239:327-337.
13. Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM. 2004. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 32:217-226.
14. Robinow M, Silverman FN, Smith HD. 1969. A newly recognized dwarfing syndrome. Am J Dis Child 117:645-651.
15. Shprintzen RJ, Goldberg RB, Saenger P, Sidoti EJ. 1982. Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. Am J Dis Child 136:594-597.
16. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. 2000. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 25:423-426.
17. Wadia RS, Shirole DB, Dikshit MS. 1978. Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? J Med Genet 15:123-127.
18. Worth HM, Wollin DG. 1966. Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol 17:67-74.