483
I Med Genet 1992; 29: 483-486
Prevalence of congenital anomaly syndromes in a Spanish gypsy population M L Martinez-Frias, E Bermejo
Here we present an analysis of the prevalAbstract We analysed the sample of gypsies ence of multiple congenital anomaly (MCA) included in the Spanish Collaborative syndromes, with special emphasis on recessive Study of Congenital Malformations disorders, observed in a Spanish population of (ECEMC), a hospital based, case-control gypsies identified through the Spanish Collabstudy and surveillance system. Special orative Study of Congenital Malformations emphasis was placed on the birth preval- (ECEMC). We also estimate the rate of consanguinity and compare it with that in the ence of recessive multiple congenital anomaly syndromes, comparing their non-gypsy population of the ECEMC. frequency in the gypsy population with that observed among non-gypsies. We observed an increased prevalence of Material and methods birth defects, mostly because of groups of The ECEMC is a hospital based, case-control children with patterns of multiple anom- study and surveillance system. All infants born alies and with autosomal recessive syn- in about 51 collaborating hospitals all over dromes. The latter were approximately Spain are examined by collaborating physiseven times more frequent in gypsies cians during the first three days of life to than in non-gypsies. We also estimated identify major and minor congenital defects. the carrier frequency in both groups Photographs, radiographs, and necropsy re(gypsy and non-gypsy). We consider that ports are included when available. For each the frequent occurrence of the conditions case, the next non-malformed infant of the observed reflects the high rate of consan- same sex born in the same hospital is selected guineous couples among the Spanish as a control. The physicians interview the gypsy population. mothers of cases and controls to gather information on obstetric data, prenatal exposures, and family history, including a question There are very few population studies on con- about the race of the parents and the four genital defects among gypsies, and information grandparents of the child. Detailed description of the ECEMC has been published elseon congenital anomalies in this ethnic group where. 1-7 comes mainly from family reports or sporadic From April 1976 to September 1990, the cases.'-3 In general, there are few scientific reports about other health aspects of the gypsy ECEMC surveyed a total population of population,4 and most of them are on blood 830 883 liveborn infants. Of these, 16 736 were groups,58 PKU,591 congenital glaucoma,12-14 malformed and 16576 were selected as conand other genetic disorders.9 trols. Race was specified in 14 083 malformed Table 1 Study population (April 1976 to September 1990). Non-gypsies
Gypsies
Per 1000
Per 1000 No
Malformed children Controls Total liveborns
273 218
%
liveborns
No
%
liveborns
Total
1-94 1-56
21-1*
13810 13 791 817 921
98-06 98-44
16-9
14083 14009 830 883
t Estimated from the distribution among controls.
Correspondence
Consanguineous
to
-
12 962t
-
-
*x2=5-76; p=0-01.
INSALUD, Hospital Universitario San Carlos y ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain. M L Martinez-Frias E Bermejo Dr Martinez-Frias,
-
Table 2 Proportion of consanguineous couples. Gypsies Control Malformed No % No % %
ECEMC, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.
Non-consanguineous
Received 19 February 1991. Revised version accepted 15 October 1991.
comparing gypsies and non-gypsies. x2 *
Consanguinity not known Total
Non-gypsies
infants*
infantst
Malformed infants
97 (36-9) 166 (63-1) 10 273
61 (29-3) 147 (70-7) 10 218
308 (2-3) 13 324 (97-7) 178 13 810
For malformed infants (gypsies v non-gypsies) X2= 1081, p
I Med Genet 1992; 29: 483-486
Prevalence of congenital anomaly syndromes in a Spanish gypsy population M L Martinez-Frias, E Bermejo
Here we present an analysis of the prevalAbstract We analysed the sample of gypsies ence of multiple congenital anomaly (MCA) included in the Spanish Collaborative syndromes, with special emphasis on recessive Study of Congenital Malformations disorders, observed in a Spanish population of (ECEMC), a hospital based, case-control gypsies identified through the Spanish Collabstudy and surveillance system. Special orative Study of Congenital Malformations emphasis was placed on the birth preval- (ECEMC). We also estimate the rate of consanguinity and compare it with that in the ence of recessive multiple congenital anomaly syndromes, comparing their non-gypsy population of the ECEMC. frequency in the gypsy population with that observed among non-gypsies. We observed an increased prevalence of Material and methods birth defects, mostly because of groups of The ECEMC is a hospital based, case-control children with patterns of multiple anom- study and surveillance system. All infants born alies and with autosomal recessive syn- in about 51 collaborating hospitals all over dromes. The latter were approximately Spain are examined by collaborating physiseven times more frequent in gypsies cians during the first three days of life to than in non-gypsies. We also estimated identify major and minor congenital defects. the carrier frequency in both groups Photographs, radiographs, and necropsy re(gypsy and non-gypsy). We consider that ports are included when available. For each the frequent occurrence of the conditions case, the next non-malformed infant of the observed reflects the high rate of consan- same sex born in the same hospital is selected guineous couples among the Spanish as a control. The physicians interview the gypsy population. mothers of cases and controls to gather information on obstetric data, prenatal exposures, and family history, including a question There are very few population studies on con- about the race of the parents and the four genital defects among gypsies, and information grandparents of the child. Detailed description of the ECEMC has been published elseon congenital anomalies in this ethnic group where. 1-7 comes mainly from family reports or sporadic From April 1976 to September 1990, the cases.'-3 In general, there are few scientific reports about other health aspects of the gypsy ECEMC surveyed a total population of population,4 and most of them are on blood 830 883 liveborn infants. Of these, 16 736 were groups,58 PKU,591 congenital glaucoma,12-14 malformed and 16576 were selected as conand other genetic disorders.9 trols. Race was specified in 14 083 malformed Table 1 Study population (April 1976 to September 1990). Non-gypsies
Gypsies
Per 1000
Per 1000 No
Malformed children Controls Total liveborns
273 218
%
liveborns
No
%
liveborns
Total
1-94 1-56
21-1*
13810 13 791 817 921
98-06 98-44
16-9
14083 14009 830 883
t Estimated from the distribution among controls.
Correspondence
Consanguineous
to
-
12 962t
-
-
*x2=5-76; p=0-01.
INSALUD, Hospital Universitario San Carlos y ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain. M L Martinez-Frias E Bermejo Dr Martinez-Frias,
-
Table 2 Proportion of consanguineous couples. Gypsies Control Malformed No % No % %
ECEMC, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.
Non-consanguineous
Received 19 February 1991. Revised version accepted 15 October 1991.
comparing gypsies and non-gypsies. x2 *
Consanguinity not known Total
Non-gypsies
infants*
infantst
Malformed infants
97 (36-9) 166 (63-1) 10 273
61 (29-3) 147 (70-7) 10 218
308 (2-3) 13 324 (97-7) 178 13 810
For malformed infants (gypsies v non-gypsies) X2= 1081, p
