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Asymmetric radial dysplasia

MedGen UID:
370003
•Concept ID:
C1969396
•
Finding
HPO: HP:0006420

Definition

The presence of asymmetric developmental dysplasia of the radius. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAsymmetric radial dysplasia

Recent clinical studies

Etiology

Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.
Lahat E, Heyman E, Barkay A, Goldberg M
J Child Neurol 2000 Dec;15(12):808-10. doi: 10.1177/088307380001501208. PMID: 11198496
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).
Evans JA, Vitez M, Czeizel A
Am J Med Genet 1994 Jan 1;49(1):52-66. doi: 10.1002/ajmg.1320490111. PMID: 8172251

Diagnosis

Dysplasia epiphysealis hemimelica of the radial head: a rare case report.
Mohamadian H, Bahardoust M, Sanandaji BM, Saberi S
BMC Musculoskelet Disord 2021 Feb 5;22(1):151. doi: 10.1186/s12891-021-04004-2. PMID: 33546632Free PMC Article
Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.
Lahat E, Heyman E, Barkay A, Goldberg M
J Child Neurol 2000 Dec;15(12):808-10. doi: 10.1177/088307380001501208. PMID: 11198496
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?
Verloes A, Narcy F, Fallet-Bianco C
Clin Dysmorphol 1995 Jan;4(1):33-7. PMID: 7735503
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Prognosis

Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.
Lahat E, Heyman E, Barkay A, Goldberg M
J Child Neurol 2000 Dec;15(12):808-10. doi: 10.1177/088307380001501208. PMID: 11198496
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Kodytková A, Amaratunga SA, Zemková D, Maratová K, Dušátková P, Plachý L, Průhová Š, Koloušková S, Lebl J
Horm Res Paediatr 2024;97(2):203-210. Epub 2023 Aug 23 doi: 10.1159/000531996. PMID: 37611564
Dysplasia epiphysealis hemimelica of the radial head: a rare case report.
Mohamadian H, Bahardoust M, Sanandaji BM, Saberi S
BMC Musculoskelet Disord 2021 Feb 5;22(1):151. doi: 10.1186/s12891-021-04004-2. PMID: 33546632Free PMC Article

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