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
Year: 2011
Type: article
Study design: Observational Study
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.
DOI: 10.1002/ajmg.c.30320
Authors: Eva Bermejo‐Sánchez, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova, María‐Luisa Martínez‐Frías
Institutions: Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto de Investigación de Enfermedades Raras, Ospedale Garibaldi, Istituto di Fisiologia Clinica, University of Utah, Utah Department of Health, Texas Department of State Health Services, National Institute on Population Medical Genetics, Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, University of Padua, University of Bologna, Soroka Medical Center, Peking University, Alberta Health, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Otto-von-Guericke-Universität Magdeburg, Finnish Institute for Health and Welfare, Azienda Ospedaliera G.Rummo, Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Slovak Medical University, Universidad Complutense de Madrid
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2135369157