Pitfalls of genetic counselling in Pfeiffer's syndrome

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Abstract

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

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Baraitser, M., Bowen-Bravery, M., & Saldana-Garcia, P. (1980). Pitfalls of genetic counselling in Pfeiffer’s syndrome. Journal of Medical Genetics, 17(4), 250–256. https://doi.org/10.1136/jmg.17.4.250

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