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Reduction Deformities, Twinning and Mortality in Brazilian Whites and Negroes

Published online by Cambridge University Press:  27 January 2025

N. Freire-Maia  and
J.B.C. Azevedo
N. Freire-Maia*
Affiliation:
Department of Genetics, Federal University of Paraná, Curitiba, Paraná, Brazil
J.B.C. Azevedo
Affiliation:
School of Philosophy, Marilia, SP, Brazil
*
Departamento de Genética (UFPr), Caixa Postal AA, 80000 Curitiba, Paraná, Brasil

Abstract

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A series of house-to-house surveys in Central Brazil revealed 32 cases of reduction deformities of the limbs (brachydactyly, synbrachydactyly, ectrodactyly, amely, adactyly, achiry, apody, etc.) among 58,761 births (0.54 per thousand, being 0.66 per thousand among Whites and 0.43 per thousand among Mulattoes and Negroes). No sibship was found with two or more equally affected singleton members. One case of concordance among twins is referred. There were no parity, inbreeding, race and sex effects. Both hands and both feet were also equally affected. Precocious mortality and twinning were significantly higher among affected individuals. The presence of cleft lip and palate in one of our index patients may also reflect an etiological relationship. Among the sibs, the total incidence of congenital malformations was similar to that generally accepted for general populations.

Riassunto

RIASSUNTO

Una inchiesta domiciliare nel Brasile Centrale ha rivelato 32 casi di deformità riduttive degli arti (brachidattilia, sinbrachidattilia, ectrodattilia, amielia, adactilia, achiria, apodia, ecc.) su di un totale di 58.761 nati (0,54 per mille, 0,66 nei bianchi e 0,43 in negri e mulatti). Non si sono trovate fratrie con due o più membri mononati affetti e viene riferito un solo caso di concordanza in gemelli. Non si sono trovati effetti di parità, endogamia, razza o sesso. Le due mani ed i due piedi sono risultati ugualmente colpiti. Nelle famiglie degli individui colpiti mortalità precoce e gemellarità sono risultate significativamente più elevate. La presenza di cheilognatopalatoschisi in uno dei pazienti indice può anche riflettere una relazione eziologica. La frequenza complessiva di malformazioni congenite fra fratelli è risultata simile a quella accettata per la popolazione generale.

Résumé

RÉSUMÉ

Une enquête domiciliaire dans le Brésil Central a révélé 32 cas de déformités réductionnelles des membres (brachydactylie, synbrachydactylie, ectrodactylie, amyélie, adactylie, achyrie, apodie, etc.) sur un total de 58.761 nés (donc 0,54 pour mil, avec 0,66 chez les blancs et 0,43 chez les noirs et les mulâtres). Des concordances entre frères n'ont pas été trouvées, à l'exception d'un cas de concordance chez deux jumeaux. Aucun effet de parité, endogamie, race, sexe ou latéralité n'a été trouvé. Mortalité précoce et gémelliparité étaient significativement plus élevées chez les familles des sujets atteints. La présence de cheilognathopalatoschise chez un des patients index pourrait refléter une relation étiologique. La fréquence de malformations congénitales chez les frères et sœurs n'était pas différente par rapport à la population générale.

Zusammenfassung

ZUSAMMENFASSUNG

Eine in Form von Hausbesuchen durchgeführte Forschung in Zentralbrasilien ergab 32 Fälle von reduzierender Missbildung der Gliedmassen (Brachydaktylie, Synbrachydaktylie, Ektrodaktylie, Amyelie, Adaktylie, Achirie, Apodie usw.). Dies entsprach 0,54°/°° aller untersuchten Kinder (58.761): 0,66°/°° der weissen und 0,43°/°° der Neger- oder Mulattenkinder. Es fanden sich keine Familien, in der zwei oder mehr Kinder von den gleichen Missbildungen betroffen waren und es wird auch nur ein Fall von Zwillingskonkordanz erwähnt. Parität, Endogamie, Rasse oder Geschlecht scheinen das Phänomen nicht zu beeinflussen. Beide Hände und beide Füssen sind in gleichem Masse betroffen. In den Familien der Betroffenen fallen frühe Sterblichkeit und Neigung zu Zwillingsgeburten auf. Der Befund eines Wolfsrachens (Cheilognathopalatoschisis) bei einem der Indexpatienten kann auf einen etiologischen Zusammenhang hinweisen. Die Gesamthäufigkeit der angeborenen Missbildungen bei Geschwistern entsprach ungefähr der für die Gesamtbevölkerung angenommenen Schätzung.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 2 , April 1977 , pp. 133 - 140
Copyright
Copyright © The International Society for Twin Studies 1977

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