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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Am+J+Med+Genet+C+Semin+Med+Genet
2011 ; 157C
(4
): 288-304
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
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English Wikipedia
Amelia: a multi-center descriptive epidemiologic study in a large dataset from
the International Clearinghouse for Birth Defects Surveillance and Research, and
overview of the literature
#MMPMID22002956
Bermejo-Sánchez E
; Cuevas L
; Amar E
; Bakker MK
; Bianca S
; Bianchi F
; Canfield MA
; Castilla EE
; Clementi M
; Cocchi G
; Feldkamp ML
; Landau D
; Leoncini E
; Li Z
; Lowry RB
; Mastroiacovo P
; Mutchinick OM
; Rissmann A
; Ritvanen A
; Scarano G
; Siffel C
; Szabova E
; Martínez-Frías ML
Am J Med Genet C Semin Med Genet
2011[Nov]; 157C
(4
): 288-304
PMID22002956
show ga
This study describes the epidemiology of congenital amelia (absence of limb/s),
using the largest series of cases known to date. Data were gathered by 20
surveillance programs on congenital anomalies, all International Clearinghouse
for Birth Defects Surveillance and Research members, from all continents but
Africa, from 1968 to 2006, depending on the program. Reported clinical
information on cases was thoroughly reviewed to identify those strictly meeting
the definition of amelia. Those with amniotic bands or limb-body wall complex
were excluded. The primary epidemiological analyses focused on isolated cases and
those with multiple congenital anomalies (MCA). A total of 326 amelia cases were
ascertained among 23,110,591 live births, stillbirths and (for some programs)
elective terminations of pregnancy for fetal anomalies. The overall total
prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China
Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher
than this overall total prevalence. Some under-registration could influence the
total prevalence in some programs. Liveborn cases represented 54.6% of total.
Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both
sides were equally involved, and the upper limbs (53.9%) were slightly more
frequently affected. One of the most interesting findings was a higher prevalence
of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of
the cases had MCA or syndromes. The most frequent defects associated with amelia
were other types of musculoskeletal defects, intestinal, some renal and genital
defects, oral clefts, defects of cardiac septa, and anencephaly.