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Multiple metaphyseal dysplasia

MedGen UID:
1842238
•Concept ID:
C5681610
•
Disease or Syndrome
Orphanet: ORPHA93430

Recent clinical studies

Etiology

Musculoskeletal imaging manifestations of beta-thalassemia.
Hajimoradi M, Haseli S, Abadi A, Chalian M
Skeletal Radiol 2021 Sep;50(9):1749-1762. Epub 2021 Feb 9 doi: 10.1007/s00256-021-03732-9. PMID: 33559685
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H, Higashimoto K
J Hum Genet 2013 Jul;58(7):402-9. Epub 2013 May 30 doi: 10.1038/jhg.2013.51. PMID: 23719190
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).
Goeteyn M, Oranje AP, Vuzevski VD, de Groot R, van Suijlekom-Smit LW
Arch Dermatol 1991 Feb;127(2):225-30. PMID: 1990988
Sclerosing bone dysplasias--a target-site approach.
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Musculoskeletal imaging manifestations of beta-thalassemia.
Hajimoradi M, Haseli S, Abadi A, Chalian M
Skeletal Radiol 2021 Sep;50(9):1749-1762. Epub 2021 Feb 9 doi: 10.1007/s00256-021-03732-9. PMID: 33559685
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T
Am J Med Genet A 2014 Oct;164A(10):2529-34. Epub 2014 Jul 10 doi: 10.1002/ajmg.a.36669. PMID: 25044890
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH
Am J Med Genet A 2013 Nov;161A(11):2762-76. Epub 2013 Oct 3 doi: 10.1002/ajmg.a.36265. PMID: 24123776
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G
Clin Dysmorphol 2005 Jan;14(1):13-18. PMID: 15602087

Therapy

Convolutional Neural Networks for Recognition of Lymphoblast Cell Images.
Pansombut T, Wikaisuksakul S, Khongkraphan K, Phon-On A
Comput Intell Neurosci 2019;2019:7519603. Epub 2019 Jun 2 doi: 10.1155/2019/7519603. PMID: 31281337Free PMC Article

Prognosis

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. PMID: 12554689
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).
Goeteyn M, Oranje AP, Vuzevski VD, de Groot R, van Suijlekom-Smit LW
Arch Dermatol 1991 Feb;127(2):225-30. PMID: 1990988

Clinical prediction guides

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. PMID: 12554689

Recent systematic reviews

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article

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