ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2011
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases 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 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 48 citations in OpenAlex.
- Chiral Coumarin Enantiomers From Prangos pabularia Roots: Absolute Configuration, Tyrosinase Activation, and Anti-Vitiligo Potential in B16F10 Cells.Chemistry & biodiversity · 2026Article
- Heavy metals detected in fetal and placental tissues in a pregnancy complicated by severe fetal growth impairment and sacrococcygeal teratoma: a case report.Frontiers in toxicology · 2026Article
- Phocomelia: Bilateral limb deficiency in a neonate: A case report.World journal of clinical pediatrics · 2025Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Key insights into cannabis-cancer pathobiology and genotoxicity.Addiction biology · 2024Article
- Non-syndromic phocomelia: A rare case report signifying prenatal screening.SAGE open medical case reports · 2024Article
- Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?Frontiers in cell and developmental biology · 2024Article
- Fetal Tetra-Amelia Birth: A Case Report.Case reports in obstetrics and gynecology · 2024Article
- Aesthetic shoulder reconstruction using hypoplastic tissue in a patient with phocomelia - A case report.JPRAS open · 2023Article
- Bilateral Upper Limb Complete Phocomelia: A Case Report.International medical case reports journal · 2023Article
- Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.Birth defects research · 2022Article
- Article
- Effects of cannabis on congenital limb anomalies in 14 European nations: A geospatiotemporal and causal inferential study.Environmental epigenetics · 2022Article
- Tbx4 function during hindlimb development reveals a mechanism that explains the origins of proximal limb defects.Development (Cambridge, England) · 2021Article
- Bilateral Total Hip Arthroplasty in the Setting of Developmental Dysplasia of the Hip and Extreme Hip Flexion Requirements due to Phocomelia.Arthroplasty today · 2021Review
- A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia.Ghana medical journal · 2021Article
- Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective.Journal of community genetics · 2018Article
- Radiographic assessment of congenital malformations of the upper extremity.Pediatric radiology · 2016Review
- Tetra-phocomelia: a rarest of rare case.Journal of clinical and diagnostic research : JCDR · 2015Article
- 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
22 authors at 18 institutions in 12 countries.
Funding
Abstract
Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.