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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
Author(s) -
BermejoSánchez Eva,
Cuevas Lourdes,
Amar Emmanuelle,
Bianca Sebastiano,
Bianchi Fabrizio,
Botto Lorenzo D.,
Canfield Mark A.,
Castilla Eduardo E.,
Clementi Maurizio,
Cocchi Guido,
Landau Danielle,
Leoncini Emanuele,
Li Zhu,
Lowry R. Brian,
Mastroiacovo Pierpaolo,
Mutchinick Osvaldo M.,
Rissmann Anke,
Ritvanen Annukka,
Scarano Gioacchino,
Siffel Csaba,
Szabova Elena,
MartínezFrías MaríaLuisa
Publication year - 2011
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30320
Subject(s) - medicine , pediatrics , pregnancy , epidemiology , live birth , confidence interval , obstetrics , genetics , biology
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. © 2011 Wiley Periodicals, Inc.