Details:

Alternative Title:
Am J Med Genet C Semin Med Genet
Publisher's site:
http://dx.doi.org/10.1002/ajmg.c.30320
Personal Author:
Bermejo-Sánchez, Eva ; Cuevas, Lourdes ; Amar, Emmanuelle ; Bianca, Sebastiano ; Bianchi, Fabrizio ; ... More +
Bermejo-Sánchez, 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 ; Martínez-Frías, María-Luisa ; Less -
Description:
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.
Subject:
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Adult
Article
Biomedical Research
Congenital Abnormalities
Ectromelia
Epidemiologic Studies
Female
Humans
Infant, Newborn
International Cooperation
Male
Population Surveillance
Pregnancy
Prevalence
Registries
Young Adult

Source:
Am J Med Genet C Semin Med Genet. 2011 ; 0(4):305-320.;
Pubmed ID:
22002800
Pubmed Central ID:
PMC4427055
Document Type:
Journal Article ;
Funding:
1U50DD000524-02/DD/NCBDD CDC HHS/United States ; CC999999/Intramural CDC HHS/United States ;
1U50DD000524-02/DD/NCBDD CDC HHS/United States ; CC999999/Intramural CDC HHS/United States ; Less -
Place as Subject:
Americas ; Australia ; China ; Europe ;
Americas ; Australia ; China ; Europe ; Less -
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:e71b5cf347723e7722aad7c917febfc56a86775995788a3f0faa1a24e2fb41c5
File Type:

Supporting Files

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