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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:  01 August 2014

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.

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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