Diastrophic Dysplasia Differential Diagnoses

1. Lamy M, Maroteaux P. Le nanisme diastrophique. Presse Med. 1960. 68:1977-80.

2. International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. Am J Med Genet. 1998 Oct 12. 79 (5):376-82. [QxMD MEDLINE Link].

3. International nomenclature of constitutional diseases of bone. Revision, May, 1977. Ann Radiol (Paris). 1978 Mar-Apr. 21 (2-3):253-8. [QxMD MEDLINE Link].

4. Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A, Adam MP, Ardinger HH, et al. Diastrophic dysplasia. Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle: University of Washington; 1993-2021. [Full Text].

5. Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999 Sep. 7 (6):664-70. [QxMD MEDLINE Link].

6. Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, et al. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet. 2008. 53 (8):764-768. [QxMD MEDLINE Link].

7. Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010 Dec. 152A (12):3043-50. [QxMD MEDLINE Link].

8. Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, et al. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 2006 Jun 1. 140 (11):1143-7. [QxMD MEDLINE Link].

9. Norio R. The Finnish Disease Heritage III: the individual diseases. Hum Genet. 2003 May. 112 (5-6):470-526. [QxMD MEDLINE Link].

10. Härkönen H, Loid P, Mäkitie O. SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature. Genes (Basel). 2021 May 11. 12 (5):[QxMD MEDLINE Link]. [Full Text].

11. Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, et al. Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. Clin Genet. 2011 Dec. 80 (6):550-7. [QxMD MEDLINE Link].

12. Cushing SL, Swanson RL, Sie KC. Prevention of auricular deformity in children with diastrophic dysplasia. Int J Pediatr Otorhinolaryngol. 2011 May. 75 (5):713-5. [QxMD MEDLINE Link].

13. Qureshi F, Jacques SM, Johnson SF, Johnson MP, Hume RF, Evans MI, et al. Histopathology of fetal diastrophic dysplasia. Am J Med Genet. 1995 Apr 10. 56 (3):300-3. [QxMD MEDLINE Link].

14. Remes V, Poussa M, Lönnqvist T, Puusa A, Tervahartiala P, Helenius I, et al. Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop. 2004 Sep-Oct. 24 (5):546-51. [QxMD MEDLINE Link].

15. Bayhan IA, Er MS, Nishnianidze T, Ditro C, Rogers KJ, Miller F, et al. Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. J Pediatr Orthop. 2016 Oct-Nov. 36 (7):709-14. [QxMD MEDLINE Link].

16. Karlstedt E, Kovero O, Kaitila I, Pirinen S. Transverse facial morphology in patients with diastrophic dysplasia. J Craniofac Genet Dev Biol. 1997 Oct-Dec. 17 (4):178-83. [QxMD MEDLINE Link].

17. Karlstedt E, Isotalo E, Haapanen ML, Kalland M, Pirinen S, Kaitila I. Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia. J Craniofac Genet Dev Biol. 1998 Jan-Mar. 18 (1):38-43. [QxMD MEDLINE Link].

18. Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Hearing loss in skeletal dysplasia patients. Am J Med Genet A. 2012 Jul. 158A (7):1551-5. [QxMD MEDLINE Link].

19. Kash IJ, Sane SM, Samaha FJ, Briner J. Cervical cord compression in diastrophic dwarfism. J Pediatr. 1974 Jun. 84 (6):862-4. [QxMD MEDLINE Link].

20. Matsuyama Y, Winter RB, Lonstein JE. The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. Spine (Phila Pa 1976). 1999 Nov 15. 24 (22):2325-31. [QxMD MEDLINE Link].

21. Remes V, Tervahartiala P, Poussa M, Peltonen J. Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. Spine (Phila Pa 1976). 2001 Jan 15. 26 (2):187-95. [QxMD MEDLINE Link].

22. Remes V, Marttinen E, Poussa M, Kaitila I, Peltonen J. Cervical kyphosis in diastrophic dysplasia. Spine (Phila Pa 1976). 1999 Oct 1. 24 (19):1990-5. [QxMD MEDLINE Link].

23. Remes V, Tervahartiala P, Poussa M, Peltonen J. Cervical spine in diastrophic dysplasia: an MRI analysis. J Pediatr Orthop. 2000 Jan-Feb. 20 (1):48-53. [QxMD MEDLINE Link].

24. Remes V, Poussa M, Peltonen J. Scoliosis in patients with diastrophic dysplasia: a new classification. Spine (Phila Pa 1976). 2001 Aug 1. 26 (15):1689-97. [QxMD MEDLINE Link].

25. Vaara P, Peltonen J, Poussa M, Merikanto J, Nurminen M, Kaitila I, et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br. 1998 Mar. 80 (2):315-20. [QxMD MEDLINE Link].

26. Gala L, Clohisy JC, Beaulé PE. Hip Dysplasia in the Young Adult. J Bone Joint Surg Am. 2016 Jan 6. 98 (1):63-73. [QxMD MEDLINE Link].

27. Peltonen J, Vaara P, Marttinen E, Ryöppy S, Poussa M. The knee joint in diastrophic dysplasia. A clinical and radiological study. J Bone Joint Surg Br. 1999 Jul. 81 (4):625-31. [QxMD MEDLINE Link].

28. Ryöppy S, Poussa M, Merikanto J, Marttinen E, Kaitila I. Foot deformities in diastrophic dysplasia. An analysis of 102 patients. J Bone Joint Surg Br. 1992 May. 74 (3):441-4. [QxMD MEDLINE Link].

29. Weiner DS, Jonah D, Kopits S. The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia. J Pediatr Orthop. 2008 Jan-Feb. 28 (1):60-7. [QxMD MEDLINE Link].

30. Al Kaissi A, Kenis V, Melchenko E, Chehida FB, Ganger R, Klaushofer K, et al. Corrections of lower limb deformities in patients with diastrophic dysplasia. Orthop Surg. 2014 Nov. 6 (4):274-9. [QxMD MEDLINE Link].

31. Remes VM, Helenius IJ, Marttinen EJ. Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients. Pediatr Radiol. 2001 Aug. 31 (8):555-8. [QxMD MEDLINE Link].

32. Remes V, Tervahartiala P, Helenius I, Peltonen J. Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. J Pediatr Orthop. 2002 Mar-Apr. 22 (2):212-6. [QxMD MEDLINE Link].

33. Miller E, Blaser S, Miller S, Keating S, Thompson M, Unger S, et al. Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol. 2008 Dec. 38 (12):1345-9. [QxMD MEDLINE Link].

34. Berceanu C, Gheonea IA, Vlădăreanu S, Cîrstoiu MM, Vlădăreanu R, Mehedinţu C, et al. Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. Med Ultrason. 2017 Jan 31. 19 (1):66-72. [QxMD MEDLINE Link]. [Full Text].

35. Vaara P, Marttinen E, Peltonen J. Ultrasonography of the patellofemoral joint in diastrophic dysplasia. J Pediatr Orthop. 1997 Jul-Aug. 17 (4):512-5. [QxMD MEDLINE Link].

36. Canto MJ, Buixeda M, Palau J, Ojeda F. Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. Prenat Diagn. 2007 Oct. 27 (10):976-8. [QxMD MEDLINE Link].

37. Basbug M, Ozgun MT, Serin IS, Akgun H, Dundar M, Kurtoglu S. OC236: Prenatal diagnosis of skeletal dysplasias: 12-year single-center experience. Ultrasound Obstet Gynecol. 2007 Oct. 30 (4):439.

38. Sepulveda W, Sepulveda-Swatson E, Sanchez J. Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. Ultrasound Obstet Gynecol. 2004 Mar. 23 (3):312-4. [QxMD MEDLINE Link].

39. de Souza Lima T, Ferreira BG, Loureiro Souza CW, Batista IBC, Araujo Júnior E, Galvão Petrini C, et al. Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three- dimensional ultrasonographic findings. Turk J Obstet Gynecol. 2021 Sep 27. 18 (3):258-263. [QxMD MEDLINE Link]. [Full Text].

40. Hunter AG. Perceptions of the outcome of orthopedic surgery in patients with chondrodysplasias. Clin Genet. 1999 Dec. 56 (6):434-40. [QxMD MEDLINE Link].

41. Helenius I, Remes V, Tallroth K, Peltonen J, Poussa M, Paavilainen T. Total hip arthroplasty in diastrophic dysplasia. J Bone Joint Surg Am. 2003 Mar. 85 (3):441-7. [QxMD MEDLINE Link].

42. Jasiewicz B, Potaczek T, Duda S, Tęsiorowski M. Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up. J Craniovertebr Junction Spine. 2015 Oct-Dec. 6 (4):216-8. [QxMD MEDLINE Link]. [Full Text].

43. Haila S, Hästbacka J, Böhling T, Karjalainen-Lindsberg ML, Kere J, Saarialho-Kere U. SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem. 2001 Aug. 49 (8):973-82. [QxMD MEDLINE Link].

44. Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL. Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child. 1982 Apr. 136 (4):316-9. [QxMD MEDLINE Link].

45. Horton WA, Rimoin DL, Lachman RS, Skovby F, Hollister DW, Spranger J, et al. The phenotypic variability of diastrophic dysplasia. J Pediatr. 1978 Oct. 93 (4):609-13. [QxMD MEDLINE Link].

46. Mäkitie O, Kaitila I. Growth in diastrophic dysplasia. J Pediatr. 1997 Apr. 130 (4):641-6. [QxMD MEDLINE Link].

47. Richards BS. Atlanto-axial instability in diastrophic dysplasia. A case report. J Bone Joint Surg Am. 1991 Apr. 73 (4):614-6. [QxMD MEDLINE Link].

48. Rimoin DL. The chondrodystrophies. Adv Hum Genet. 1975. 5:1-118. [QxMD MEDLINE Link].

49. Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA. Diastrophic dwarfism. Medicine (Baltimore). 1972 Jan. 51 (1):41-59. [QxMD MEDLINE Link].

Shital Parikh, MD Associate Professor, Department of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Orthopaedic Research Society

Disclosure: Nothing to disclose.

Preeti Batra, MD, MBBS Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Twee T Do, MD Clinical Faculty, Rocky Vista University College of Osteopathic Medicine; Attending Surgeon, Advanced Orthopedics

Twee T Do, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Academy of Pediatrics, Colorado Medical Society, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Harris Gellman, MD Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine; Clinical Professor of Surgery, Nova Southeastern School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, Arkansas Medical Society, Florida Medical Association, Florida Orthopaedic Society

Disclosure: Nothing to disclose.

Howard A Chansky, MD Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center

Howard A Chansky, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

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