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Achondroplastic dwarfism

MedGen UID:
443897
•Concept ID:
C2930793
•
Disease or Syndrome

Professional guidelines

PubMed

The congenitally malformed. 13. Achondroplastic dwarfism; diagnosis and management.
Shepard TH, Graham B
Northwest Med 1967 May;66(5):451-6. PMID: 5633980

Recent clinical studies

Etiology

Extracorporal noninvasive acute retraction of STRYDE(®) for continued lengthening in cases with limited nail stroke: a technical less invasive solution to reload the STRYDE(®).
Schiedel F
Arch Orthop Trauma Surg 2021 Jun;141(6):899-905. Epub 2020 May 26 doi: 10.1007/s00402-020-03484-6. PMID: 32458076
Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism.
Staub BN, Holman PJ
J Neurosurg Spine 2015 Feb;22(2):162-5. Epub 2014 Nov 21 doi: 10.3171/2014.10.SPINE14300. PMID: 25415482
Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism.
Murphy CG, Chrea B, Molloy AP, Nicholson P
BMJ Case Rep 2013 Mar 20;2013 doi: 10.1136/bcr-2013-008793. PMID: 23519511Free PMC Article
Labor analgesia for the parturient with an uncommon disorder: a common dilemma in the delivery suite.
Kuczkowski KM
Obstet Gynecol Surv 2003 Dec;58(12):800-3. doi: 10.1097/01.OGX.0000097782.52780.3E. PMID: 14668661
Normal somatomedin and somatomedin receptors in achondroplastic dwarfism.
Rosenfeld RG, Hintz RL
Horm Metab Res 1980 Feb;12(2):76-9. doi: 10.1055/s-2007-996205. PMID: 6245996

Diagnosis

Pycnodysostosis: the disease of Henri de Toulouse-Lautrec.
Markatos K, Mavrogenis AF, Karamanou M, Androutsos G
Eur J Orthop Surg Traumatol 2018 Dec;28(8):1569-1572. Epub 2018 May 24 doi: 10.1007/s00590-018-2233-8. PMID: 29797092
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature.
Elsoueidi R, Gresham C, Michael L, Chaney D, Mourad H
J Clin Pharm Ther 2016 Dec;41(6):733-735. Epub 2016 Oct 6 doi: 10.1111/jcpt.12464. PMID: 27709641
Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism.
Staub BN, Holman PJ
J Neurosurg Spine 2015 Feb;22(2):162-5. Epub 2014 Nov 21 doi: 10.3171/2014.10.SPINE14300. PMID: 25415482
Coronary bypass using bilateral internal mammary arteries in an achondroplast.
Alassal MA, Youssef M, Koudieh M
Asian Cardiovasc Thorac Ann 2015 Jan;23(1):70-1. Epub 2013 Oct 16 doi: 10.1177/0218492313499765. PMID: 24887865
Assessment of osteoporotic alterations in achondroplastic patients: a case series.
Arita ES, Pippa MG, Marcucci M, Cardoso R, Cortes AR, Watanabe PC, Oliveira JX
Clin Rheumatol 2013 Mar;32(3):399-402. Epub 2012 Nov 24 doi: 10.1007/s10067-012-2126-x. PMID: 23179008

Therapy

Reverse repurposing: Potential utility of cancer drugs in nonmalignant illnesses.
Nikanjam M, Wells K, Kato S, Adashek JJ, Block S, Kurzrock R
Med 2024 Jul 12;5(7):689-717. Epub 2024 May 14 doi: 10.1016/j.medj.2024.04.008. PMID: 38749442Free PMC Article
Anaesthesia for Caesarean section in a patient with diastrophic dwarfism.
Porter M, Mendonca C
Int J Obstet Anesth 2007 Apr;16(2):145-8. Epub 2007 Jan 30 doi: 10.1016/j.ijoa.2006.08.012. PMID: 17270421
Labor analgesia for the parturient with an uncommon disorder: a common dilemma in the delivery suite.
Kuczkowski KM
Obstet Gynecol Surv 2003 Dec;58(12):800-3. doi: 10.1097/01.OGX.0000097782.52780.3E. PMID: 14668661
Fatal laryngeal injury in an achondroplastic dwarf secondary to airbag deployment.
Roberts D, Pexa C, Clarkowski B, Morey M, Murphy M
Pediatr Emerg Care 1999 Aug;15(4):260-1. PMID: 10460080
Achondroplastic dwarfism. Effects of treatment with human growth hormone.
Escamilla RF, Hutchings JJ, Li CH, Forsham P
Calif Med 1966 Aug;105(2):104-10. PMID: 5946547Free PMC Article

Prognosis

Anaesthesia for Caesarean section in a patient with diastrophic dwarfism.
Porter M, Mendonca C
Int J Obstet Anesth 2007 Apr;16(2):145-8. Epub 2007 Jan 30 doi: 10.1016/j.ijoa.2006.08.012. PMID: 17270421
A comparison of two osteotomy techniques for tibial lengthening.
Eralp L, Kocaoğlu M, Ozkan K, Türker M
Arch Orthop Trauma Surg 2004 Jun;124(5):298-300. Epub 2004 Mar 18 doi: 10.1007/s00402-004-0646-9. PMID: 15034725
Fatal laryngeal injury in an achondroplastic dwarf secondary to airbag deployment.
Roberts D, Pexa C, Clarkowski B, Morey M, Murphy M
Pediatr Emerg Care 1999 Aug;15(4):260-1. PMID: 10460080
Anaesthesia for the achondroplastic dwarf.
Mayhew JF, Katz J, Miner M, Leiman BC, Hall ID
Can Anaesth Soc J 1986 Mar;33(2):216-21. doi: 10.1007/BF03010834. PMID: 3697817
Neurological symptoms in achondroplastic dwarfs--surgical treatment.
Lutter LD, Langer LO
J Bone Joint Surg Am 1977 Jan;59(1):87-92. PMID: 833182

Clinical prediction guides

Craniofacial Features of Dwarfism in the Paintings of Velázquez.
Hwang SW, Hwang K, Tukeshov SK
J Craniofac Surg 2023 Sep 1;34(6):1804-1806. Epub 2023 May 22 doi: 10.1097/SCS.0000000000009368. PMID: 37220719
Pycnodysostosis: the disease of Henri de Toulouse-Lautrec.
Markatos K, Mavrogenis AF, Karamanou M, Androutsos G
Eur J Orthop Surg Traumatol 2018 Dec;28(8):1569-1572. Epub 2018 May 24 doi: 10.1007/s00590-018-2233-8. PMID: 29797092
Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report.
Miyazaki M, Kanezaki S, Notani N, Ishihara T, Tsumura H
Medicine (Baltimore) 2017 Dec;96(49):e8983. doi: 10.1097/MD.0000000000008983. PMID: 29245270Free PMC Article
Assessment of osteoporotic alterations in achondroplastic patients: a case series.
Arita ES, Pippa MG, Marcucci M, Cardoso R, Cortes AR, Watanabe PC, Oliveira JX
Clin Rheumatol 2013 Mar;32(3):399-402. Epub 2012 Nov 24 doi: 10.1007/s10067-012-2126-x. PMID: 23179008
Anaesthesia for the achondroplastic dwarf.
Mayhew JF, Katz J, Miner M, Leiman BC, Hall ID
Can Anaesth Soc J 1986 Mar;33(2):216-21. doi: 10.1007/BF03010834. PMID: 3697817

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