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American Journal of Medical Genetics.... Nov 2011This 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... (Review)
Review
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.
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.
Topics: Americas; Australia; Biomedical Research; China; Congenital Abnormalities; Ectromelia; Epidemiologic Studies; Europe; Female; Humans; Infant, Newborn; International Cooperation; Male; Population Surveillance; Pregnancy; Prevalence; Registries; Young Adult
PubMed: 22002956
DOI: 10.1002/ajmg.c.30319 -
Birth Defects Research Dec 2022Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence...
BACKGROUND
Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder.
MATERIALS AND METHODS
We collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found.
RESULTS
A total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively.
CONCLUSIONS
Infant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.
Topics: Pregnancy; Infant; Female; Humans; Ectromelia; Prevalence; Finland; Limb Deformities, Congenital; Maternal Age
PubMed: 36353751
DOI: 10.1002/bdr2.2123 -
American Journal of Medical Genetics.... Nov 2008Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to... (Review)
Review
Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.
Topics: Abnormalities, Multiple; Adolescent; Cleft Lip; Cleft Palate; Ectromelia; Female; Fetus; Genes, Recessive; Humans; Lung; Phenotype; Pregnancy; Syndrome
PubMed: 18837045
DOI: 10.1002/ajmg.a.32489 -
The Journal of Bone and Joint Surgery.... Apr 1965
Topics: Artificial Limbs; Child; Congenital Abnormalities; Ectromelia; Extremities; Humans; Pregnancy; Prostheses and Implants; Statistics as Topic
PubMed: 14275170
DOI: No ID Found -
Journal of Medicine and Life Apr 2022Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and... (Review)
Review
Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia. It is a rare disorder that might be isolated or associated with visceral anomalies.
Topics: Ectromelia; Female; Fibula; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 35646168
DOI: 10.25122/jml-2021-0397 -
Journal of Pediatric Orthopedics 1985
Topics: Abnormalities, Multiple; Arm; Artificial Limbs; Braces; Child; Child, Preschool; Ectromelia; Female; Hip Joint; Humans; Infant; Radiography; Scoliosis; Spine
PubMed: 4044824
DOI: 10.1097/01241398-198509000-00021 -
Journal of the Indian Medical... Apr 1993
Topics: Adult; Cesarean Section; Ectromelia; Female; Fetal Distress; Humans; Infant, Newborn; Male; Pregnancy; Thumb
PubMed: 8409481
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2001
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Teratology Jan 1990Amelia, or complete absence of a limb, is a very rare congenital anomaly. The incidence of amelia in a population of 1,213,913 consecutive livebirths in British Columbia...
Amelia, or complete absence of a limb, is a very rare congenital anomaly. The incidence of amelia in a population of 1,213,913 consecutive livebirths in British Columbia during the period 1952-1984 was studied using the records of a population-based registry with multiple sources of ascertainment. There were 18 cases of amelia, giving a minimal incidence rate of 0.15 per 10,000 livebirths for this birth defect. Amelia occurred equally frequently in upper and lower limbs, and 11 of 18 (61%) liveborn cases also had malformations of other organ systems. In the group with lower limb amelia a specific pattern of associated malformations, which included omphalocele and diaphragmatic defects, was identified. There was no evidence for familial recurrence of amelia. Conditions to be considered in differential diagnosis are discussed.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; British Columbia; Diagnosis, Differential; Ectromelia; Female; Humans; Infant, Newborn; Male; Thalidomide
PubMed: 2305372
DOI: 10.1002/tera.1420410104 -
American Journal of Medical Genetics Mar 1995Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs.... (Review)
Review
Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs.
Topics: Abnormalities, Multiple; Abortion, Induced; Ectodermal Dysplasia; Ectromelia; Face; Female; Fetus; Genes, Recessive; Humans; Male; Pregnancy
PubMed: 7625439
DOI: 10.1002/ajmg.1320560210