Spectrum of anomalies, including absence or hypoplasia of any of the following
Radius
Radial carpal bones
Thumb
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Syvänen J et al: Prevalence and risk factors of radial ray deficiencies: a population-based case-control study. Am J Med Genet A. 185(3):759-65, 2021
Ozols D et al: Methods for congenital thumb hypoplasia reconstruction. A review of the outcomes for ten years of surgical treatment. Medicina (Kaunas). 55(10), 2019
Vargesson N: The teratogenic effects of thalidomide on limbs. J Hand Surg Eur Vol. 44(1):88-95, 2019
Yang PY et al: Prenatal diagnosis of radial ray defects by ultrasound: a report of 6 cases. Taiwan J Obstet Gynecol. 57(4):598-600, 2018
Sevilla-Montoya R et al: Heterogeneous diagnoses underlying radial ray anomalies. Indian J Pediatr. 84(3):200-5, 2017
Al-Qattan MM: The pathogenesis of radial ray deficiency in thrombocytopenia-absent radius (TAR) syndrome. J Coll Physicians Surg Pak. 26(11):912-6, 2016
Al-Qattan MM: Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg. 70(1):116-8, 2013
Al-Qattan MM: The ubiquitin/SUMO pathway and radial ray deficiency syndromes. Ann Plast Surg. 70(2):240-5, 2013
Bottillo I et al: Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 6:376, 2013
Pakkasjärvi N et al: Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. Am J Med Genet A. 161A(2):261-7, 2013
Stoll C et al: Associated malformations among infants with radial ray deficiency. Genet Couns. 24(2):223-34, 2013
Al-Qattan MM et al: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A. 158A(10):2610-5, 2012
Kennelly MM et al: A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. Prenat Diagn. 27(8):730-7, 2007
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Synonyms
Radial ray hypoplasia/aplasia
Definitions
Spectrum of anomalies, including absence or hypoplasia of any of the following
Radius
Radial carpal bones
Thumb
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Syvänen J et al: Prevalence and risk factors of radial ray deficiencies: a population-based case-control study. Am J Med Genet A. 185(3):759-65, 2021
Ozols D et al: Methods for congenital thumb hypoplasia reconstruction. A review of the outcomes for ten years of surgical treatment. Medicina (Kaunas). 55(10), 2019
Vargesson N: The teratogenic effects of thalidomide on limbs. J Hand Surg Eur Vol. 44(1):88-95, 2019
Yang PY et al: Prenatal diagnosis of radial ray defects by ultrasound: a report of 6 cases. Taiwan J Obstet Gynecol. 57(4):598-600, 2018
Sevilla-Montoya R et al: Heterogeneous diagnoses underlying radial ray anomalies. Indian J Pediatr. 84(3):200-5, 2017
Al-Qattan MM: The pathogenesis of radial ray deficiency in thrombocytopenia-absent radius (TAR) syndrome. J Coll Physicians Surg Pak. 26(11):912-6, 2016
Al-Qattan MM: Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg. 70(1):116-8, 2013
Al-Qattan MM: The ubiquitin/SUMO pathway and radial ray deficiency syndromes. Ann Plast Surg. 70(2):240-5, 2013
Bottillo I et al: Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 6:376, 2013
Pakkasjärvi N et al: Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. Am J Med Genet A. 161A(2):261-7, 2013
Stoll C et al: Associated malformations among infants with radial ray deficiency. Genet Couns. 24(2):223-34, 2013
Al-Qattan MM et al: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A. 158A(10):2610-5, 2012
Kennelly MM et al: A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. Prenat Diagn. 27(8):730-7, 2007
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