On the Inheritance of the Deformity Known as Split-Foot or Lobster-Claw

Abstract

JSTOR is a not-for-profit service that helps scholars, researchers, and students discover, use, and build upon a wide range of content in a trusted digital archive. We use information technology and tools to increase productivity and facilitate new forms of scholarship. For more information about JSTOR, please contact support@jstor.org.. Biometrika Trust is collaborating with JSTOR to digitize, preserve and extend access to Biometrika. IN 1908 Pearson discussed the pedigree of a certain Lobster-Claw or Split-Foot Family in this Journal *. Pearson's information was obtaitued from several members of the family, but his photographs and skiagrams were of one particular section of it. McMullan, unacquainted with Pearson's paper, read a paper on the same family before the Reading Pathological Society in 1910. He worked principally with a (lifferent section of the family and his photographs and skiagrams did not cover the same individuals as Pearson's. Hearing of the latter's paper, McMullan placed his material at the disposal of the Editor of this Journal and the present supplementary metnoir is the result. During the five years that have intervened since the first paper several additions have been made by birth to the family; thus while Pearson dealt with 25 deformed individuals the present account contains 33t. Further, somewhat fuller particulars have been found of the two earliest generations. The order of birth of Generation III. and further the total number of brothers and sisters were given differently by different members of the family to Pearson and to McMullan. These discrepancies led Pearson to make some investigation into the church registers, but they disclosed a rather chaotic state of affairs. Some facts, however, resulted. Ann J. (II. 3) was married to Francis S. (II. 4), at N. in the Chilterns in 1837, both being utnable to sign their names. It was supposed that III. 2, 3 and 5 were born before the S.'s migrated to W. The names of most of the othier children in Generation III. are to be found at about the proper dates in the baptismal register of W. BtLt not until the birth of John S. (III. 13), who mnust have died under two years of *

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion

“…In addition, segregation distortion with excessive transmission from affected fathers to affected sons has been described in some SHFM pedigrees. A disturbed segregation ratio was found in the English SHFM family first reported by McMullen and Pearson (1913), and this information was brought up to date by Stevenson and Jennings (1960). Jarvik et al (1994) studied new SHFM pedigrees with defined ascertainment and analyzed them in conjunction with previously published pedigrees, which included most of those summarized in 1960 by Stevenson and Jennings. They concluded that the new pedigrees confirmed Pearson's initial observation of non-Mendelian transmission characterized by overtransmission of SHFM from affected fathers to sons.…”

The Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)

“…In the same year (1908) and in the same periodical Biometrika of which he was a founding editor, Karl Pearson described a family with SHFM [7]. This was later revised with a co-author McMullan [8]. Pearson made a detailed segregation analysis concluding that the data did not accord with Mendel's model of inheritance.…”

Bendectin and birth defects: Hopefully, the final chapter

“…The Hagaman case (1987) involved a plaintiff with a typical split‐hand, split‐foot syndrome that is due to an autosomal dominant gene (Pearson, 1908; McMullen and Pearson, 1913; MacKenzie and Penrose, 1951; Neugebauer, 1962; David, 1972; Bujdoso and Lenz, 1980), either inherited, or mutated during oogenesis or spermatogenesis. Alleging that an exposure to Bendectin during pregnancy caused this malformation is scientifically inappropriate.…”