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Familial ectrodactyly and polydactyly: variable expressivity of one single gene ‐ embryological considerations
Author(s) -
Regemorter N. van,
Milaire J.,
Ramet J.,
Haumont D.,
Rodesch F.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01434.x
Subject(s) - ectrodactyly , polydactyly , dysostosis , anatomy , hand deformity , medicine , phalanx , deformity , congenital disease , ectodermal dysplasia , surgery , dermatology
Coexistence of polydactyly and ectrodactyly in a sibship of four children is reported. One boy and one male twin presented polydactyly, the male monozygotic cotwin had a lobster claw deformity of the right foot and the last child, a girl, had absence of the phalanges of the right hand. Embryological explanation of these apparently totally opposed malformations is attempted.