ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2011
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.Annals of medicine and surgery (2012) · 2025Article
- Key insights into cannabis-cancer pathobiology and genotoxicity.Addiction biology · 2024Article
- Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.Birth defects research · 2022Article
- Congenital Limb Deficiency: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
- Article
- Effects of cannabis on congenital limb anomalies in 14 European nations: A geospatiotemporal and causal inferential study.Environmental epigenetics · 2022Article
- Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM).Children (Basel, Switzerland) · 2021Article
- Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male.Radiology case reports · 2020Article
- Functional outcomes in bilateral upper limb Amelia patient with scoliosis post vertical expandable prosthetic titanium rib (VEPTR) application: A case report.International journal of surgery case reports · 2020Article
- Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association.Case reports in radiology · 2019Article
- [Reporting of birth defects from the Zika outbreak in Colombia, 2015-2017Notificação de defeitos congênitos associados ao surto de vírus zika na Colômbia, 2015-2017].Revista panamericana de salud publica = Pan American journal of public health · 2019Article
- Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective.Journal of community genetics · 2018Article
- Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity.Scientific reports · 2017Article
- Amelia: A Case Report and Literature Review.Iranian journal of pediatrics · 2015Article
- Reports to the Vaccine Adverse Event Reporting System after hepatitis A and hepatitis AB vaccines in pregnant women.American journal of obstetrics and gynecology · 2014Article
- Prevalence of orofacial clefts in Nigeria.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2014Article
- Big data and clinicians: a review on the state of the science.JMIR medical informatics · 2014Review
- Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.BMC musculoskeletal disorders · 2013Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
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