A family study of cases with unidentified multiple congenital abnormality.

Research output: Contribution to journalArticle

Abstract

A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6% sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1% of fathers and 4.2% of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0% and 3.5%, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5%. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78% of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.

Original languageEnglish
Pages (from-to)317-329
Number of pages13
JournalActa Paediatrica Hungarica
Volume29
Issue number3-4
Publication statusPublished - 1988

Fingerprint

Multiple Abnormalities
Mothers
Fetal Death
Diagnostic Errors
Fathers
Documentation
Registries
Pregnancy
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A family study of cases with unidentified multiple congenital abnormality. / Czeizel, E.

In: Acta Paediatrica Hungarica, Vol. 29, No. 3-4, 1988, p. 317-329.

Research output: Contribution to journalArticle

@article{e53676c0a83044fbbeb8673f9d1bf71a,
title = "A family study of cases with unidentified multiple congenital abnormality.",
abstract = "A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6{\%} sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1{\%} of fathers and 4.2{\%} of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0{\%} and 3.5{\%}, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5{\%}. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78{\%} of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.",
author = "E. Czeizel",
year = "1988",
language = "English",
volume = "29",
pages = "317--329",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Verlag",
number = "3-4",

}

TY - JOUR

T1 - A family study of cases with unidentified multiple congenital abnormality.

AU - Czeizel, E.

PY - 1988

Y1 - 1988

N2 - A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6% sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1% of fathers and 4.2% of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0% and 3.5%, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5%. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78% of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.

AB - A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6% sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1% of fathers and 4.2% of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0% and 3.5%, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5%. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78% of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.

UR - http://www.scopus.com/inward/record.url?scp=0024155298&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024155298&partnerID=8YFLogxK

M3 - Article

C2 - 3269268

AN - SCOPUS:0024155298

VL - 29

SP - 317

EP - 329

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 3-4

ER -