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Polydactyly and Brachymetapody in Two English Families SARAH B

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Polydactyly and Brachymetapody in Two English Families SARAH B J Med Genet: first published as 10.1136/jmg.12.4.355 on 1 December 1975. Downloaded from Journal of Medical Genetics (1975). 12, 355. Polydactyly and brachymetapody in two English families SARAH B. HOLT Galton Laboratory, University College, London Summary. Two new pedigrees of polydactyly associated with brachymeta- pody are described. In one the two defects occur in different members of the family, while in the other both occur in the same individuals. Both anomalies appear to be inherited as dominants, the polydactyly showing incomplete manifes- tation. Polydactyly, the presence of extra digits on though brachymetapody may be combined with hands and feet, is a well-known structural anomaly. brachyphalangy (see for example Birkenfeld, 1928; In man it is presumably due to a dominant gene. Brailsford, 1945). The expression is variable and normal overlapping During the past 70 years brachymetapody has occurs. Relatively frequently persons carrying the been described on numerous occasions, though it gene show no visible abnormality. Both hands and seems to be comparatively uncommon. A number feet may have extra digits, but sometimes not all the of the descriptions are of isolated cases where noth- extremities are affected and in some cases only one ing has been ascertained about the members of the copyright. is abnormal. The defect varies considerably from families concerned. Various pedigrees, however, family to family. Lewis (1909) wrote that poly- have been recorded. Bell (1951), who called the dactyly 'is most frequently post-axial (towards little condition Type E brachydactyly, presented 15 finger or toe), but many varieties are known. Thus pedigrees of brachymetapody from the literature. it may be pre-axial (towards thumb or great toe), in She also noted its occurrence in some members of which case the hereditary tendency is probably less three families showing other types of brachy- marked; or the duplication may be central.' The dactyly. In addition Davenport (1933) described a extra digits may be well developed or merely repre- family showing three members with shortened http://jmg.bmj.com/ sented by small nodules. Sometimes polydactyly metacarpals, while Koenner (1934) recorded a single occurs with other defects of the hands and feet and case in an otherwise normal family. sometimes alone. Bell (1953) considered the The anomaly appears to be inherited as a domi- association of polydactyly with syndactyly and nant with incomplete manifestation. The expres- assembled the relevant pedigrees. Mohan (1969) sion is variable, ranging from unilateral cases where described an Indian family where both polydactyly one metacarpal or metatarsal is short to those where and ectrodactyly occurred. three or even four metacarpals and metatarsals are affected bilaterally. The fourth metacarpals and on September 29, 2021 by guest. Protected Brachymetapody is the condition where one or metatarsals are the ones most frequently shortened. more metacarpals or metatarsals are abnormally Among affected individuals there is a marked excess short. The term has been used by various authors of females. (Koenner, 1934; Stiles, 1939; Steggerda, 1942; In three of the pedigrees polydactyly occurred as Gates, 1946) and the condition has been classified as well as brachymetapody. Members of a family de- a form of brachydactyly (Schinz, 1943; Bell, 1951), scribed by Mathew (1908) had short third, fourth, for the digits articulating with the shortened meta- and fifth metacarpals associated with polydactyly of carpals or metatarsals appear short. The phalan- digit IV. It is not clear whether all the affected ges, however, are typically of normal length, al- individuals had both defects. Biemond (1934) re- corded a case of polydactyly (reduplication of the Received 25 November 1974. right thumb) in a family with much mental defect. 355 J Med Genet: first published as 10.1136/jmg.12.4.355 on 1 December 1975. Downloaded from 356 Sarah B. Holt The eldest son of a mentally defective mother had hereditary ataxia and polydactyly, while of his six sibs three had shortened metacarpals and metatar- sals, digit IV being affected. The bone anomalies occurred only in this sibship and not in other rela- tives. Brailsford (1945) studied a family group showing numerous cases of brachymetapody. Some II of the individuals had other bone defects and two 49 women, cousins, with short metacarpals and meta- tarsals reported that each had been told that she was III t jt born with six fingers on each hand. These had been cauterized a few days after birth. It is not stated on which side of the hand the extra fingers * Polydactyly were situated, but it seems probable that the poly- Q Brachymetapody dactyly was post-axial. @ Extra toe on both feet Sverdrup (1922/1923) also found brachydactyly J Extra f inger on left hand due to shortening ofthe metacarpals and metatarsals * Extra digit on both hands and both feet 9 Extra finger on both hands and extra tce associated with post-axial polydactyly in a Nor- on right foot wegian family. The abnormality was always con- e Shortened metacarpal on both hands nected with 'A type' polydactyly, ie, where the extra J Shortened metatarsal on left foot digit was strongly developed, as contrasted with 'B FIG. 1. Pedigree of family 1 with post-axial polydactyly in scme type' where the extra digit was represented by a members and brachymetapody in others. small, loosely attached appendage. Only poly- dactyl individuals showed the brachydactyly. 1.3, Y. Died at the age of 5 years. She is described by 1.1 as having had 'six toes' on her feet. 1.4, d. Hands and feet normal. He has been blind The English pedigrees for many years; coloboma of the left iris. His palm- Two previously unrecorded pedigrees in which both and finger-prints were obtained (Fig. 8). copyright. polydactyly and brachymetapody occur are described. 1.5, Y. Died at 1 year. She is said to have had nor- In the first the two abnormalities occur in different mem- mal hands and feet. (Information from I.1 and I.2.) bers ofthe family, while in the second both are present in I.6, Killed in the first world war. the same individuals. There are polydactyl twins in cd. He is said to both pedigrees. have had normal hands and feet. In family 1 the polydactyly is post-axial, the dupli- 1.7, 9. She has a short fifth metacarpal on both cation involving the fifth digit. The expression is vari- hands, but no polydactyly. Her feet are normal. Her able, ranging from well-developed digits to loosely hands and feet were x-rayed (Fig. 2) and her palm- and attached, boneless appendages. Hands and/or feet are finger-prints taken (Fig. 8). http://jmg.bmj.com/ affected. The brachymetapody takes the form of II., Y. Died of tuberculosis at the age of 23 years. shortening of the fifth metacarpals in one member and of According to her mother (I.1) she had normal hands and a short fourth metatarsal in two others. feet, but 'poor eye-sight'. In family 2 the polydactyly was post-axial on the II.2, Y. Had six fingers on her left hand (digit V re- hands of the living members and the third and fourth duplicated). The extra digit was amputated. Her feet metacarpals are reduced in length. However, the pro- are normal. Her palm- and finger-prints were taken positus described his grandfather and his twin sister as (Fig. 8). having extra thumbs. On the feet the polydactyly is pre- on September 29, 2021 by guest. Protected axial and is associated with syndactyly. When there is 11.3, Y. Had an extra little toe on each foot. These brachymetapody, it is limited to the second metatarsals. were amputated. Palm- and finger-prints were obtained (Fig. 8). Blood was typed for the ABO, MNS, Kell, Family I (Fig. 1) and Lutheran blood-group systems; classification: L.l, Y. Digit V was reduplicated on both feet, but the 0, MsMs, K +, Lu (a-). extra toes were amputated. She has been blind for II.4, d (husband of II.3) has normal hands and feet. many years as a result ofcoloboma ofthe choroid and iris He was blood-typed, classification: and retinal detachment. Her hand-prints were taken A2, NsNs, K+, Lu (a-). (Fig. 2). According to her, neither her mother nor her father had extra II.5, 6. His hands are normal, but metatarsal IV on fingers or toes. his left foot is short. His right foot appears normal. I.2, c'. Hands and feet normal. His palm- and His hands and feet were x-rayed (Fig. 3) and his palm- finger-prints were taken (Fig. 8). and finger-prints were obtained (see Fig. 8). J Med Genet: first published as 10.1136/jmg.12.4.355 on 1 December 1975. Downloaded from Polydactyly and brachymetapody in two English families 357 R copyright. .| http://jmg.bmj.com/ ... ".-'c.. | _ |i l l * on September 29, 2021 by guest. Protected a2 IPi1.|..,W !| 11*11-*111.b !18.} '.::i, .1. .. ;.11* F *:::...:t j '.:.rig.i i * _ _ USei R 2; X X g w ..*....?.0*r:: .w.wll.|.w] sfl qk|khwiZk..rkF|F||I||_r| FIG. 2. Radiographs of hands and feet of 1.7 V (family 1). J Med Genet: first published as 10.1136/jmg.12.4.355 on 1 December 1975. Downloaded from 358 Sarah B. Holt R copyright. http://jmg.bmj.com/ on September 29, 2021 by guest. Protected F io1L FIG. 3. Radiographs of hands and feet of II.5 d (son of 1.7) in family 1. J Med Genet: first published as 10.1136/jmg.12.4.355 on 1 December 1975. Downloaded from Polydactyly and brachymetapody in two English families 359 L L R R A.
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