title: 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.
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.
authors: Instituto de Investigación de Enfermedades Raras, Madrid, Spain. eva.bermejo@isciii.es
authors: Eva
authors: E
authors: Bermejo-Sánchez
authors: Lourdes
authors: L
authors: Cuevas
authors: Emmanuelle
authors: E
authors: Amar
authors: Sebastiano
authors: S
authors: Bianca
authors: Fabrizio
authors: F
authors: Bianchi
authors: Lorenzo D
authors: LD
authors: Botto
authors: Mark A
authors: MA
authors: Canfield
authors: Eduardo E
authors: EE
authors: Castilla
authors: Maurizio
authors: M
authors: Clementi
authors: Guido
authors: G
authors: Cocchi
authors: Danielle
authors: D
authors: Landau
authors: Emanuele
authors: E
authors: Leoncini
authors: Zhu
authors: Z
authors: Li
authors: R Brian
authors: RB
authors: Lowry
authors: Pierpaolo
authors: P
authors: Mastroiacovo
authors: Osvaldo M
authors: OM
authors: Mutchinick
authors: Anke
authors: A
authors: Rissmann
authors: Annukka
authors: A
authors: Ritvanen
authors: Gioacchino
authors: G
authors: Scarano
authors: Csaba
authors: C
authors: Siffel
authors: Elena
authors: E
authors: Szabova
authors: María-Luisa
authors: ML
authors: Martínez-Frías
mesh_terms: D000328:Adult; D000569:Americas / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D035843:Biomedical Research / Q000639:trends; D002681:China / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000473:pathology; D004480:Ectromelia / Q000453:epidemiology* / Q000473:pathology; D016021:Epidemiologic Studies; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007391:International Cooperation; D008297:Male; D011159:Population Surveillance / Q000379:methods*; D011247:Pregnancy; D015995:Prevalence; D012042:Registries; D055815:Young Adult