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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 -
Pediatrics Oct 1962
Topics: Ectromelia; Thalidomide
PubMed: 13993505
DOI: No ID Found -
The Journal of the International... Mar 1963
Topics: Congenital Abnormalities; Ectromelia; Humans; Learning; Metabolic Diseases; Prenatal Exposure Delayed Effects; Thalidomide
PubMed: 13961195
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 -
Indian Journal of Pediatrics Feb 2008
Topics: Adult; Antiemetics; Ectromelia; Female; Humans; Infant, Newborn; Pregnancy; Pregnancy Trimester, First; Radiography
PubMed: 18334799
DOI: 10.1007/s12098-008-0068-8 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Diagnosis, Differential; Ectromelia; Face; Genes, Recessive; Humans; Prognosis; Psychomotor Disorders; Syndrome
PubMed: 11057210
DOI: No ID Found -
American Journal of Medical Genetics Mar 1989We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat... (Review)
Review
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Ectromelia; Female; Fetus; Genes, Recessive; Humans; Infant, Newborn; Karyotyping; Male; Phenotype; Pregnancy; Prenatal Diagnosis; Syndrome; Ultrasonography
PubMed: 2658590
DOI: 10.1002/ajmg.1320320325 -
Gynakologisch-geburtshilfliche Rundschau 2001The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and...
The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients.
Topics: Abnormalities, Multiple; Abortion, Eugenic; Adult; Centromere; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Diagnosis, Differential; Ectromelia; Female; Genes, Recessive; Humans; Infant, Newborn; Pregnancy; Syndrome; Ultrasonography, Prenatal
PubMed: 11423730
DOI: 10.1159/000049454 -
British Medical Journal Dec 1962
Topics: Congenital Abnormalities; Ectromelia; Humans; Thalidomide
PubMed: 13929004
DOI: 10.1136/bmj.2.5317.1447 -
Canadian Medical Association Journal Oct 1962Three infants were born with phocomelia in Winnipeg during the period from May 1961 to May 1962. In one case thalidomide had been administered to the mother early in the...
Three infants were born with phocomelia in Winnipeg during the period from May 1961 to May 1962. In one case thalidomide had been administered to the mother early in the pregnancy. No etiological agent was discovered in the other two, both of whom died. Known teratogenic agents capable of causing phocomelia are reviewed, but no clear association with the two cases described in this report is evident.
Topics: Death; Ectromelia; Female; Humans; Infant; Infant, Newborn; Mothers; Pregnancy; Thalidomide
PubMed: 14022756
DOI: No ID Found