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Robin's Syndrome in Three Children of Consanguineous Parents — A Pedigree Suggesting Autosomal Recessive Inheritance

Published online by Cambridge University Press:  27 January 2025

Giuseppe Russo ,
Florindo Mollica ,
Lorenzo Pavone  and
Salvatore Musumeci
Giuseppe Russo*
Affiliation:
Pediatric Clinic, University of Catania, Italy
Florindo Mollica
Affiliation:
Pediatric Clinic, University of Catania, Italy
Lorenzo Pavone
Affiliation:
Pediatric Clinic, University of Catania, Italy
Salvatore Musumeci
Affiliation:
Pediatric Clinic, University of Catania, Italy
*
Clinica Pediatrica dell'Universita, Viale A. Doria, Catania, Italy

Summary

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A family is described in which three siblings were affected by Robin's syndrome (micrognathia and glossoptosis with cleft palate) in its severe form. Two children died very early in life, the third is surviving after surgical management and appropriate nursing care. The children were born from a consanguineous marriage (their parents were first cousins). This pedigree is highly suggestive of an autosomal recessive kind of inheritance. Malformations of the extremities (hands and/or feet) were present in the probands as well as in two relatives of the paternal line.

Riassunto

Riassunto

Viene descritta una famiglia con tre fratelli affetti da sindrome di Robin (micrognazia e glossoptosi con palatoschisi) nella forma grave. Due bambini sono morti nei primi giorni di vita, mentre il terzo è sopravvissuto dopo trattamento chirurgico e cure adatte. I genitori di questi bambini sono cugini primi. La genealogia è fortemente indicativa di un'eredità autosomica recessiva. Malformazioni delle estremità (mani e/o piedi) erano presenti sia nei probandi che in due parenti della linea paterna.

Résumé

Résumé

Une famille est décrite avec trois frères atteints de syndrome de Robin (micrognatie et glossoptose avec palatoschise) dans la forme grave. Deux enfants sont morts dans les premiers jours de vie, tandis que le troisième est survécu après traitement chirurgical et des soins appropriés. Les parents sont cousins de premier degré. Cette généalogie suggère une hérédité autosomique récessive. Des malformations des extrémités (mains et/ou pieds) étaient présentes chez les enfants atteints ainsi que chez deux parents de la ligne paternelle.

Zusammenfassung

Zusammenfassung

In einer Familie kamen drei Geschwister mit schwerem Robin-Syndrom (Micrognathie u. Glossoptosis mit Palatoschisis) zur Welt. Zwei starben in den ersten Tagen, das dritte Kind konnte durch chirurgischen Eingriff und entsprechende Behandlung weiter leben. Die Eltern sind Vetter ersten Grades. Diese Familiengeschichte lässt auf rezessiv autosomen Erbgang schliessen. Sowohl die Kinder als zwei väterliche Verwandte wiesen Missbildungen an den Extremitäten (Hände und/oder Füsse) auf.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 21 , Issue 4 , October 1972 , pp. 349 - 353
Copyright
Copyright © The International Society for Twin Studies 1972

References

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