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Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents

✍ Scribed by Richieri-Costa, A.; Brandão-Almeida, I. L.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 19 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<233::aid-ajmg23>3.0.co;2-e

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✦ Synopsis

In 1992 one of us (A.R.-C.) reported on a new syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot in five girls belonging to five different families. Most were born to consanguineous parents and all affected male patients were dead. We suggested that we were dealing with a sublethal recessive condition [Richieri-Costa and Pereira, 1992].

In 1993, we reported on this condition affecting male patients, and we extended our sample to seven families (four consanguineous and three nonconsanguineous) with a total of 15 affected patients (seven male and eight female). Eight patients were alive (six female and Contract grant sponsor: FAPESP, Sa ˜o Paulo, Brazil; Contract grant number: 95/4768-0.

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