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Short ulnae

MedGen UID:
350599
•Concept ID:
C1862132
•
Finding
Synonym: Short ulna

Professional guidelines

PubMed

Antibiotic treatment regimens for bone infection after debridement: a study of 902 cases.
Wang X, Fang L, Wang S, Chen Y, Ma H, Zhao H, Xie Z
BMC Musculoskelet Disord 2020 Apr 7;21(1):215. doi: 10.1186/s12891-020-03214-4. PMID: 32264852Free PMC Article

Recent clinical studies

Etiology

Antibiotic treatment regimens for bone infection after debridement: a study of 902 cases.
Wang X, Fang L, Wang S, Chen Y, Ma H, Zhao H, Xie Z
BMC Musculoskelet Disord 2020 Apr 7;21(1):215. doi: 10.1186/s12891-020-03214-4. PMID: 32264852Free PMC Article
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V
J Med Genet 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. PMID: 22499340
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
Kannu P, McFarlane JH, Savarirayan R, Aftimos S
Am J Med Genet A 2007 Nov 1;143A(21):2607-11. doi: 10.1002/ajmg.a.31989. PMID: 17935248
New form of platyspondylic lethal chondrodysplasia.
Akaba K, Nishimura G, Hashimoto M, Wakabayashi T, Kanasugi H, Hayasaka K
Am J Med Genet 1996 Dec 30;66(4):464-7. doi: 10.1002/(SICI)1096-8628(19961230)66:4<464::AID-AJMG16>3.0.CO;2-S. PMID: 8989469

Diagnosis

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A
Am J Med Genet A 2018 Mar;176(3):739-742. Epub 2018 Jan 31 doi: 10.1002/ajmg.a.38623. PMID: 29383834
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M
Am J Med Genet A 2011 Mar;155A(3):599-604. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33717. PMID: 21344627
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
Wieczorek D, Köster B, Gillessen-Kaesbach G
Am J Med Genet 2002 Mar 15;108(3):209-13. doi: 10.1002/ajmg.10271. PMID: 11891687
Occipital horn syndrome: report of a patient and review of the literature.
Tsukahara M, Imaizumi K, Kawai S, Kajii T
Clin Genet 1994 Jan;45(1):32-5. doi: 10.1111/j.1399-0004.1994.tb03986.x. PMID: 8149649
de la Chapelle dysplasia.
Whitley CB, Burke BA, Granroth G, Gorlin RJ
Am J Med Genet 1986 Sep;25(1):29-39. doi: 10.1002/ajmg.1320250105. PMID: 3799721

Therapy

Bilateral atypical ulnar fractures occurring after long-term treatment with bisphosphonate for 7 years and with teriparatide for 2 years: a case report.
Asano Y, Tajiri K, Yagishita S, Nakanishi H, Ishii T
Osteoporos Int 2020 Dec;31(12):2473-2476. Epub 2020 Sep 10 doi: 10.1007/s00198-020-05618-3. PMID: 32910217
Antibiotic treatment regimens for bone infection after debridement: a study of 902 cases.
Wang X, Fang L, Wang S, Chen Y, Ma H, Zhao H, Xie Z
BMC Musculoskelet Disord 2020 Apr 7;21(1):215. doi: 10.1186/s12891-020-03214-4. PMID: 32264852Free PMC Article

Prognosis

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.
Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H
Fetal Diagn Ther 2012;32(3):216-20. Epub 2012 Feb 18 doi: 10.1159/000335687. PMID: 22354125
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation.
Ueno K, Tanaka M, Miyakoshi K, Zhao C, Shinmoto H, Nishimura G, Yoshimura Y
Prenat Diagn 2002 Dec;22(12):1071-5. doi: 10.1002/pd.470. PMID: 12454961
New form of platyspondylic lethal chondrodysplasia.
Akaba K, Nishimura G, Hashimoto M, Wakabayashi T, Kanasugi H, Hayasaka K
Am J Med Genet 1996 Dec 30;66(4):464-7. doi: 10.1002/(SICI)1096-8628(19961230)66:4<464::AID-AJMG16>3.0.CO;2-S. PMID: 8989469
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.
Kantaputra PN, Gorlin RJ, Langer LO Jr
Am J Med Genet 1992 Dec 1;44(6):730-7. doi: 10.1002/ajmg.1320440606. PMID: 1481840

Clinical prediction guides

Orthogonal double plate fixation for long bone fracture nonunion.
El Haj M, Khoury A, Mosheiff R, Liebergall M, Weil YA
Acta Chir Orthop Traumatol Cech 2013;80(2):131-7. PMID: 23562257
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
Kannu P, McFarlane JH, Savarirayan R, Aftimos S
Am J Med Genet A 2007 Nov 1;143A(21):2607-11. doi: 10.1002/ajmg.a.31989. PMID: 17935248
Mietens-Weber syndrome: two new patients and a review.
Martínez-Glez V, Lapunzina P, Delicado A, Tendero A, Mori MÁ, de Torres ML, Fernández L, Palomares M, Pajares IL
Clin Dysmorphol 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7. PMID: 16760739
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894
de la Chapelle dysplasia.
Whitley CB, Burke BA, Granroth G, Gorlin RJ
Am J Med Genet 1986 Sep;25(1):29-39. doi: 10.1002/ajmg.1320250105. PMID: 3799721

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