Biomaterial Database

Congenital limb reduction defects in twins. 1996

J Métneki, and A E Czeizel, and J A Evans

Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.

The study relates to congenital limb reduction defects (CLRDs) in twins from a 10-year-period (1975-1984) and is based on cases from the Hungarian Congenital Abnormality Registry. In order to clarify the respective contributions of genetic and environmental factors to CLRDs and the role of causal factors in common with twinning, the occurrence of CLRDs in twins was studied. In eight multiple CLRD twin cases (i.e. those with additional non-limb malformations), one monozygous concordant and one semi-concordant twin pair was found, indicating that genetic factors play a limited role in pathogenesis. There is no correlation between twinning and isolated CLRDs. Frequency of CLRDs in general was no higher in twins than in all births, although there was a non-significantly higher twinning rate in multiple CLRD cases. Twins with CLRDs were more often male, especially in multiple cases. CONCLUSIONS There may be a relationship between twinning and congenital abnormalities, but twinning is not a major factor contributing to CLRD cases.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D012042	Registries	The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.	Parish Registers,Population Register,Parish Register,Population Registers,Register, Parish,Register, Population,Registers, Parish,Registers, Population,Registry
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004200	Diseases in Twins	Disorders affecting TWINS, one or both, at any age.	Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D004480	Ectromelia	Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.	Amelia,Congenital Limb Reduction Deformities,Congenital Limb Reduction Deformity,Hemimelia,Phocomelia,Sirenomelia,Fused Legs and Feet,Mermaid Malformation,Mermaid Syndrome,Sirenomelia Sequence,Sirenomelus,Malformation, Mermaid,Sequence, Sirenomelia,Sirenomelia Sequences,Syndrome, Mermaid
D005260	Female		Females
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies