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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
- Spectrum of anomalies, including absence or hypoplasia of any of the following
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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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
- Spectrum of anomalies, including absence or hypoplasia of any of the following
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
