Top

Published in:

Open Access 01-12-2013 | Review

Brachydactyly E: isolated or as a feature of a syndrome

Authors: Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibañez, Guiomar Perez de Nanclares

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

Abstract

Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.

Available only for authorised users

Temtamy SA, Aglan MS: Brachydactyly. Orphanet J Rare Dis. 2008, 3: 15. 10.1186/1750-1172-3-15.PubMedCentralPubMed

Hall CM: International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002, 113: 65-77. 10.1002/ajmg.10828.PubMed

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011, 155A: 943-968.PubMed

Bell J: On Brachydactyly and Symphalangism. London: Cambridge University Press; 1951.

Temtamy SA, McKusick VA: The Genetics of Hand Malformations. NewYork: The National Foundation. March Dimes. Alan R Liss Inc; 1978.

Mundlos S: The brachydactylies: a molecular disease family. Clin Genet. 2009, 76: 123-136. 10.1111/j.1399-0004.2009.01238.x.PubMed

Hertzog KP: Brachydactyly and pseudo-pseudohypopthyroidism. Acta Genet Med Gemellol (Roma). 1968, 17: 428-438.

Canepa G, Maroteaux P, Pietrogrande V: Dysmorphic Syndromes and Constitutional Disease of the Skeleton. Padova, Italy: Piccin Nuova Libraria; 2001.

Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, et al: Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet. 2003, 72: 984-997. 10.1086/374721.PubMedCentralPubMed

10.

Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V: An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development. 2003, 130: 1701-1712. 10.1242/dev.00396.PubMed

11.

Jamsheer A, Sowinska A, Kaczmarek L, Latos-Bielenska A: Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. BMC Med Genet. 2012, 13: 4.PubMedCentralPubMed

12.

Brison N, Tylzanowski P, Debeer P: Limb skeletal malformations - what the HOX is going on?. Eur J Med Genet. 2012, 55: 1-7. 10.1016/j.ejmg.2011.06.003.PubMed

13.

Oude Luttikhuis ME, Williams DK, Trembath RC: Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. J Med Genet. 1996, 33: 873-876. 10.1136/jmg.33.10.873.PubMedCentralPubMed

14.

Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, et al: Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007, 80: 361-371. 10.1086/511387.PubMedCentralPubMed

15.

Drezner MK, Neelon FA, Haussler M, McPherson HT, Lebovitz HE: 1,25-Dihydroxycholecalciferol deficiency: the probable cause of hypocalcemia and metabolic bone disease in pseudohypopthyroidism. J Clin Endocrinol Metab. 1976, 42: 621-628. 10.1210/jcem-42-4-621.PubMed

16.

Stone MD, Hosking DJ, Garcia-Himmelstine C, White DA, Rosenblum D, Worth HG: The renal response to exogenous pthyroid hormone in treated pseudohypopthyroidism. Bone. 1993, 14: 727-735. 10.1016/8756-3282(93)90204-N.PubMed

17.

Murray TM, Rao LG, Wong MM, Waddell JP, McBroom R, Tam CS, et al: Pseudohypopthyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to pthyroid hormone in cells cultured from bone. J Bone Miner Res. 1993, 8: 83-91.PubMed

18.

Ish-Shalom S, Rao LG, Levine MA, Fraser D, Kooh SW, Josse RG, et al: Normal pthyroid hormone responsiveness of bone-derived cells from a patient with pseudohypopthyroidism. J Bone Miner Res. 1996, 11: 8-14.PubMed

19.

De Sanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C: Brachydactyly in 14 genetically characterized pseudohypopthyroidism type Ia patients. J Clin Endocrinol Metab. 2004, 89: 1650-1655. 10.1210/jc.2003-030850.PubMed

20.

Poznanski AK, Werder EA, Giedion A, Martin A, Shaw H: The pattern of shortening of the bones of the hand in PHP and PPHP–A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. Radiology. 1977, 123: 707-718.PubMed

21.

Wilson LC, Hall CM: Albright’s hereditary osteodystrophy and pseudohypopthyroidism. Semin Musculoskelet Radiol. 2002, 6: 273-283. 10.1055/s-2002-36726.PubMed

22.

Levine MA, Modi WS, O’Brien SJ: Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization. Genomics. 1991, 11: 478-479. 10.1016/0888-7543(91)90164-A.PubMed

23.

Bastepe M: The GNAS locus: quintessential complex gene encoding gsalpha, xlalphas, and other imprinted transcripts. Curr Genomics. 2007, 8: 398-414. 10.2174/138920207783406488.PubMedCentralPubMed

24.

Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, et al: Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest. 2001, 107: R31-R36. 10.1172/JCI11887.PubMedCentralPubMed

25.

Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A: The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab. 2002, 87: 4736-4740. 10.1210/jc.2002-020183.PubMed

26.

Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, et al: Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypopthyroidism type 1a. Biochem Biophys Res Commun. 2002, 296: 67-72. 10.1016/S0006-291X(02)00833-1.PubMed

27.

Weinstein LS, Yu S, Warner DR, Liu J: Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev. 2001, 22: 675-705. 10.1210/er.22.5.675.PubMed

28.

Miao ZM, Wang C, Wang BB, Meng DM, Su DM, Cheng Z, et al: Identification of a novel mutation in a pseudohypopthyroidism family. Int J Endocrinol. 2011, 201 (1): 509549.

29.

Weinstein LS: Albright hereditary osteodystrophy, pseudohypopthyroidism, and Gs deficiency. G proteins, receptors and disease. Edited by: Spiegel AM. New Jersey: Humara Press; 1998: 23-56.

30.

Perez de Nanclares G, Fernandez-Rebollo E, Santin I, Garcia-Cuartero B, Gaztambide S, Menendez E, et al: Epigenetic defects of GNAS in patients with pseudohypopthyroidism and mild features of Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab. 2007, 92: 2370-2373. 10.1210/jc.2006-2287.

31.

Mariot V, Maupetit-Mehouas S, Sinding C, Kottler ML, Linglart A: A maternal epimutation of GNAS leads to Albright osteodystrophy and PTH resistance. J Clin Endocrinol Metab. 2008, 93: 661-665.PubMed

32.

Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, et al: Molecular diagnosis and clinical characterization of pseudohypopthyroidism type-Ib in a patient with mild Albright’s hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci. 2008, 336: 84-90. 10.1097/MAJ.0b013e31815b218f.PubMed

33.

Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, et al: Pseudohypopthyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010, 95: 651-658. 10.1210/jc.2009-0176.PubMed

34.

Zazo C, Thiele S, Martin C, Fernandez-Rebollo E, Martinez-Indart L, Werner R, et al: Gsalpha activity is reduced in erythrocyte membranes of patients with psedohypopthyroidism due to epigenetic alterations at the GNAS locus. J Bone Miner Res. 2011, 26: 1864-1870. 10.1002/jbmr.369.PubMed

35.

Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, et al: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypopthyroidism type Ib. Nat Genet. 2005, 37: 25-27. 10.1038/ng1560.PubMed

36.

Chillambhi S, Turan S, Hwang DY, Chen HC, Juppner H, Bastepe M: Deletion of the noncoding GNAS antisense transcript causes pseudohypopthyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010, 95: 3993-4002. 10.1210/jc.2009-2205.PubMedCentralPubMed

37.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, et al: Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008, 40: 949-951. 10.1038/ng.187.PubMed

38.

Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, et al: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 2009, 5: e1000423. 10.1371/journal.pgen.1000423.PubMedCentralPubMed

39.

Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, et al: Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS Locus. J Clin Endocrinol Metab. 2012, 97: E1060-E1067. 10.1210/jc.2012-1081.PubMed

40.

Bastepe M, Lane AH, Juppner H: Paternal uniparental isodisomy of chromosome 20q–and the resulting changes in GNAS1 methylation–as a plausible cause of pseudohypopthyroidism. Am J Hum Genet. 2001, 68: 1283-1289. 10.1086/320117.PubMedCentralPubMed

41.

Fernandez-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goni F, et al: New mechanisms involved in paternal 20q disomy associated with pseudohypopthyroidism. Eur J Endocrinol. 2010, 163: 953-962. 10.1530/EJE-10-0435.PubMed

42.

Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Juppner H: Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypopthyroidism type Ib (PHP-Ib). Bone. 2011, 48: 659-662. 10.1016/j.bone.2010.10.168.PubMedCentralPubMed

43.

Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz GD, et al: Madelung-Like Deformity in Pseudohypopthyroidism Type 1b. J Clin Endocrinol Metab. 2011, 96: E1507-E1511. 10.1210/jc.2011-1411.PubMedCentralPubMed

44.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, et al: PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab. 2012, 97: E2328-E2338. 10.1210/jc.2012-2326.PubMed

45.

Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, et al: Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child. 1971, 121: 195-203.PubMed

46.

Michot C, Le GC, Goldenberg A, Abhyankar A, Klein C, Kinning E, et al: Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet. 2012, 90: 740-745. 10.1016/j.ajhg.2012.03.003.PubMedCentralPubMed

47.

Maroteaux P, Malamut G: [Acrodysostosis]. Presse Med. 1968, 76: 2189-2192.PubMed

48.

Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, et al: Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011, 364: 2218-2226. 10.1056/NEJMoa1012717.PubMed

49.

Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW, et al: Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012, 90: 746-751. 10.1016/j.ajhg.2012.03.004.PubMedCentralPubMed

50.

Hamanishi C, Nagata Y, Nagao Y, Sohen S, Tanaka S: Acrodysostosis associated with spinal canal stenosis. Spine (Phila Pa 1976 ). 1993, 18: 1922-1925. 10.1097/00007632-199310000-00035.

51.

Butler MG, Rames LJ, Wadlington WB: Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. Am J Med Genet. 1988, 30: 971-980. 10.1002/ajmg.1320300416.PubMed

52.

Silve C, Clauser E, Linglart A: Acrodysostosis. Horm Metab Res. 2012, 44: 749-758.PubMed

53.

Graham JM, Krakow D, Tolo VT, Smith AK, Lachman RS: Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypopthyroidism. Pediatr Radiol. 2001, 31: 2-9. 10.1007/s002470000355.PubMed

54.

Bilginturan N, Zileli S, Karacadag S, Pirnar T: Hereditary brachydactyly associated with hypertension. J Med Genet. 1973, 10: 253-259. 10.1136/jmg.10.3.253.PubMedCentralPubMed

55.

Schuster H, Wienker TE, Bahring S, Bilginturan N, Toka HR, Neitzel H, et al: Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet. 1996, 13: 98-100. 10.1038/ng0596-98.PubMed

56.

Schuster H, Wienker TF, Toka HR, Bahring S, Jeschke E, Toka O, et al: Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. Hypertension. 1996, 28: 1085-1092. 10.1161/01.HYP.28.6.1085.PubMed

57.

Bahring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, et al: Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet. 1997, 60: 732-735.PubMedCentralPubMed

58.

Schuster H: Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension. Nephrol Dial Transplant. 1998, 13: 1337-1340. 10.1093/ndt/13.6.1337.PubMed

59.

Hattenbach LO, Toka HR, Toka O, Schuster H, Luft FC: Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly. Br J Ophthalmol. 1998, 82: 1363-1365. 10.1136/bjo.82.12.1363.PubMedCentralPubMed

60.

Jordan J, Toka HR, Heusser K, Toka O, Shannon JR, Tank J, et al: Severely impaired baroreflex-buffering in patients with monogenic hypertension and neurovascular contact. Circulation. 2000, 102: 2611-2618. 10.1161/01.CIR.102.21.2611.PubMed

61.

Luft FC: Monogenic hypertension: lessons from the genome. Kidney Int. 2001, 60: 381-390. 10.1046/j.1523-1755.2001.00810.x.PubMed

62.

Luft FC, Toka O, Toka HR, Jordan J, Bahring S: Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. Am J Physiol Regul Integr Comp Physiol. 2003, 285: R709-R714.PubMed

63.

Luft FC: Mendelian forms of human hypertension and mechanisms of disease. Clin Med Res. 2003, 1: 291-300. 10.3121/cmr.1.4.291.PubMedCentralPubMed

64.

Bahring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, et al: Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension. 2004, 43: 471-476. 10.1161/01.HYP.0000111808.08715.ec.PubMed

65.

Bahring S, Kann M, Neuenfeld Y, Gong M, Chitayat D, Toka HR, et al: Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. Hypertension. 2008, 51: 426-431. 10.1161/HYPERTENSIONAHA.107.101774.PubMed

66.

Toka O, Maass PG, Aydin A, Toka H, Hubner N, Ruschendorf F, et al: Childhood hypertension in autosomal-dominant hypertension with brachydactyly. Hypertension. 2010, 56: 988-994. 10.1161/HYPERTENSIONAHA.110.156620.PubMed

67.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, et al: Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. Am J Med Genet. 1997, 73: 279-285. 10.1002/(SICI)1096-8628(19971219)73:3<279::AID-AJMG10>3.0.CO;2-G.PubMed

68.

Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y: Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet. 1995, 55: 16-18. 10.1002/ajmg.1320550106.PubMed

69.

Derbent M, Baskin E, Agildere M, Agras PI, Saatci U: Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations. Pediatr Nephrol. 2006, 21: 390-393. 10.1007/s00467-005-2111-6.PubMed

70.

Naraghi R, Schuster H, Toka HR, Bahring S, Toka O, Oztekin O, et al: Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly. Stroke. 1997, 28: 1749-1754. 10.1161/01.STR.28.9.1749.PubMed

71.

Litwin M, Jurkiewicz E, Nowak K, Kosciesza A, Grenda R, Malczyk K, et al: Arterial hypertension with brachydactyly in a 15-year-old boy. Pediatr Nephrol. 2003, 18: 814-819. 10.1007/s00467-003-1169-2.PubMed

72.

Benarroch EE: The arterial baroreflex: functional organization and involvement in neurologic disease. Neurology. 2008, 71: 1733-1738. 10.1212/01.wnl.0000335246.93495.92.PubMed

73.

Toka HR, Bahring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, et al: Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. Ann Intern Med. 1998, 129: 204-208. 10.7326/0003-4819-129-3-199808010-00008.PubMed

74.

Lu HY, Cui YX, Shi YC, Xia XY, Liang Q, Yao B, et al: A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH. Am J Med Genet A. 2009, 149A: 2321-2323. 10.1002/ajmg.a.33030.PubMed

75.

Gong M, Zhang H, Schulz H, Lee YA, Sun K, Bahring S, et al: Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p. Hum Mol Genet. 2003, 12: 1273-1277. 10.1093/hmg/ddg135.PubMed

76.

Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, et al: A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet. 2010, 19: 848-860. 10.1093/hmg/ddp553.PubMedCentralPubMed

77.

Bai XH, Wang DW, Kong L, Zhang Y, Luan Y, Kobayashi T, et al: ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor. Mol Cell Biol. 2009, 29: 4201-4219. 10.1128/MCB.00056-09.PubMedCentralPubMed

78.

Bai XH, Wang DW, Luan Y, Yu XP, Liu CJ: Regulation of chondrocyte differentiation by ADAMTS-12 metalloproteinase depends on its enzymatic activity. Cell Mol Life Sci. 2009, 66: 667-680. 10.1007/s00018-008-8633-x.PubMed

79.

Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, et al: A misplaced lncRNA causes brachydactyly in humans. J Clin Invest. 2012, 122: 3990-4002. 10.1172/JCI65508.PubMedCentralPubMed

80.

Troy A, Sharpless NE: Genetic “lnc”-age of noncoding RNAs to human disease. J Clin Invest. 2012, 122: 3837-3840. 10.1172/JCI66645.PubMedCentralPubMed

81.

Stricker S, Mundlos S: Mechanisms of digit formation: human malformation syndromes tell the story. Dev Dyn. 2011, 240: 990-1004. 10.1002/dvdy.22565.PubMed

82.

Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, et al: Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010, 86: 434-439. 10.1016/j.ajhg.2010.01.023.PubMedCentralPubMed

83.

Collinson M, Leonard SJ, Charlton J, Crolla JA, Silve C, Hall CM, et al: Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. Am J Med Genet A. 2010, 152A: 3124-3128. 10.1002/ajmg.a.33567.PubMed

84.

Fernandez-Rebollo E, Perez O, Martinez-Bouzas C, Cotarelo-Perez MC, Garin I, Ruibal JL, et al: Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome. Eur J Endocrinol. 2009, 160: 711-717.PubMed

85.

Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, et al: Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet. 1995, 56: 400-407.PubMedCentralPubMed

86.

Falk RE, Casas KA: Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C Semin Med Genet. 2007, 145C: 357-371. 10.1002/ajmg.c.30153.PubMed

87.

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. Eur J Hum Genet. 2013, 21: 743-748. 10.1038/ejhg.2012.240.PubMedCentralPubMed

88.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, et al: Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010, 87: 219-228. 10.1016/j.ajhg.2010.07.011.PubMedCentralPubMed

89.

Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, et al: Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. Am J Med Genet A. 2012, 158A: 2124-2130. 10.1002/ajmg.a.35495.PubMed

90.

Felder B, Radlwimmer B, Benner A, Mincheva A, Todt G, Beyer KS, et al: FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A. 2009, 149A: 952-959. 10.1002/ajmg.a.32779.PubMed

91.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, et al: De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011, 19: 507-512. 10.1038/ejhg.2010.226.PubMedCentralPubMed

92.

Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, et al: Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet. 2004, 41: 433-439. 10.1136/jmg.2003.017202.PubMedCentralPubMed

93.

Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ: Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet. 2004, 66: 537-544. 10.1111/j.1399-0004.2004.00363.x.PubMed

94.

Power MM, James RS, Barber JC, Fisher AM, Wood PJ, Leatherdale BA, et al: RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet. 1997, 34: 287-290. 10.1136/jmg.34.4.287.PubMedCentralPubMed

95.

Chaabouni M, Le MM, Raoul O, Prieur M, de Blois MC, Philippe A, et al: Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet. 2006, 49: 255-263. 10.1016/j.ejmg.2005.07.001.PubMed

96.

Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, et al: Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet A. 2012, 158A: 2015-2020. 10.1002/ajmg.a.35463.PubMed

97.

Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, et al: Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A. 2004, 130A: 331-339. 10.1002/ajmg.a.30156.PubMed

98.

Giardino D, Finelli P, Gottardi G, De CG, Della MM, Lonardo F, et al: Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet A. 2003, 122A: 261-265. 10.1002/ajmg.a.20287.PubMed

99.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, et al: Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2012, 34: 97-102.PubMed

100.

Ludecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, et al: Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001, 68: 81-91. 10.1086/316926.PubMedCentralPubMed

101.

Shanske AL, Patel A, Saukam S, Levy B, Ludecke HJ: Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A. 2008, 146A: 3211-3216. 10.1002/ajmg.a.32615.PubMed

102.

Momeni P, Glockner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, et al: Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000, 24: 71-74. 10.1038/71717.PubMed

103.

Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, et al: Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. Ann Clin Lab Sci. 2012, 42: 307-312.PubMed

104.

Riedl S, Giedion A, Schweitzer K, Mullner-Eidenbock A, Grill F, Frisch H, et al: Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. Am J Med Genet A. 2004, 131: 200-203.PubMed

105.

Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F: Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. Am J Med Genet A. 2008, 146A: 1598-1604. 10.1002/ajmg.a.32348.PubMed

106.

Weaver DD, Cohen MM, Smith DW: The tricho-rhino-phalangeal syndrome. J Med Genet. 1974, 11: 312-314. 10.1136/jmg.11.3.312.PubMedCentralPubMed

107.

Sidler JA, Filges I, Boesch N, Ramelli GP, Rothlisberger B, Huber AR, et al: TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. Clin Dysmorphol. 2012, 21: 87-90. 10.1097/MCD.0b013e32834e9248.PubMed

108.

Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V: Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta. 1973, 28: 249-259.PubMed

109.

Giedion A: Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. Pediatr Radiol. 1998, 28: 751-758. 10.1007/s002470050460.PubMed

110.

Noltorp S, Kristoffersson UL, Mandahl N, Stigsson L, Svensson B, Werner CO: Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics. Ann Rheum Dis. 1986, 45: 31-36. 10.1136/ard.45.1.31.PubMedCentralPubMed

111.

Akierman SV, Skappak CD, Girgis R, Ho J: Turner syndrome and apparent absent uterus: a case report and review of the literature. J Pediatr Endocrinol Metab. 2013, 26: 587-589.PubMed

112.

Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, et al: Precocious puberty in Turner syndrome: report of a case and review of the literature. Ital J Pediatr. 2012, 38: 54. 10.1186/1824-7288-38-54.PubMedCentralPubMed

113.

Bondy CA: New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. 2005, 6: 269-280. 10.1007/s11154-005-6185-z.PubMed

114.

Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH: Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006, 91: 3897-3902. 10.1210/jc.2006-0558.PubMed

115.

Pinsker JE: Clinical review: Turner syndrome: updating the pdigm of clinical care. J Clin Endocrinol Metab. 2012, 97: E994-E1003. 10.1210/jc.2012-1245.PubMed

116.

Liu XY, Zhang HG, Chen S, Wang RX, Zhang ZH, Liu RZ: 45, X mosaicism in northeast China: a clinical report and review of the literature. J Assist Reprod Genet. 2013, 30: 407-412. 10.1007/s10815-012-9927-3.PubMedCentralPubMed

117.

Bondy CA: Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007, 92: 10-25.PubMed

118.

Archibald RM, FinbY N, De Vito F: Endocrine significance of short metacarpals. J Clin Endocrinol Metab. 1959, 19: 1312-1322. 10.1210/jcem-19-10-1312.PubMed

119.

Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, et al: Trends in age at diagnosis of Turner syndrome. Arch Dis Child. 2005, 90: 267-268. 10.1136/adc.2004.049817.PubMedCentralPubMed

Title: Brachydactyly E: isolated or as a feature of a syndrome
Authors: Arrate Pereda
Intza Garin
Maria Garcia-Barcina
Blanca Gener
Elena Beristain
Ane Miren Ibañez
Guiomar Perez de Nanclares
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-141

At a glance: The STEP trials

Springer Medicine

Brachydactyly E: isolated or as a feature of a syndrome

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2013

Pathways systematically associated to Hirschsprung’s disease

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Brain involvement in Alström syndrome

miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors