{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:48:41Z","timestamp":1768438121368,"version":"3.49.0"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,4]]},"abstract":"<jats:p>An extended family is described in which four sisters and half sisters presented with ectrodactyly. Two of the sisters had associated agenesis of the tibiae. The paper describes the malformations and discusses the management and possible genetic inheritance involved. An autosomal recessive gene seems likely to be the mode of inheritance.<\/jats:p>","DOI":"10.1136\/jmg.24.4.220","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"220-224","source":"Crossref","is-referenced-by-count":8,"title":["Ectrodactyly in sisters and half sisters."],"prefix":"10.1136","volume":"24","author":[{"given":"M H","family":"Mufti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S K","family":"Wood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,4,1]]},"reference":[{"key":"ref_1","article-title":"Uber eine sehr complexierte Hasenscharte oder einen sogenannten Wolfsrachen, mit einer an demselben Subjekte befindlichen merkwurdigen Misstaltung der Hande und Fusse. In: Operirt von Dr Johann Gottlob Echoldt, abgebildetund beschrieben von Dr F Heinrich Martens","author":"Martens, F.H.","year":"1804","unstructured":"Martens FH. Uber eine sehr complexierte Hasenscharte oder einen sogenannten Wolfsrachen, mit einer an demselben Subjekte befindlichen merkwurdigen Misstaltung der Hande und Fusse. In: Operirt von Dr Johann Gottlob Echoldt, abgebildetund beschrieben von Dr F Heinrich Martens. Leipzig: EF Steinacker, 1804."},{"key":"ref_2","first-page":"1832","article-title":"Histoire generale et particuliere des anomalies de l'organisation chex i'homme et les animaux. Vol 1","author":"Saint-Hilaire, I.G.","unstructured":"Saint-Hilaire IG. Histoire generale et particuliere des anomalies de l'organisation chex i'homme et les animaux. Vol 1. Paris: Balliere, 1832:676-81."},{"key":"ref_3","article-title":"Die Missbildugen der Extremitaten durch Defekt, Verwachsung und Ueberzahl. In: Biblioteca Medica","volume":"3","author":"Kummel, W.","unstructured":"Kummel W. Die Missbildugen der Extremitaten durch Defekt, Verwachsung und Ueberzahl. In: Biblioteca Medica. Section E, vol 3, Kassel: Th G Fischer, 1895 (quoted by Birch-Jensen\").","journal-title":"Section"},{"key":"ref_4","first-page":"53","article-title":"The genetics of hand malformations","author":"Temtamy, S.A.; McKusick, V.A.","year":"1976","unstructured":"Temtamy SA, McKusick VA. The genetics of hand malformations. New York: The National Foundation-March of Dimes. Birth Defects 1976:53-71."},{"key":"ref_5","first-page":"392","article-title":"Ein Beitrag zu den Symmetrichen Missbildungen der Finger und Zehen","volume":"21","author":"Pott, R.","year":"1884","unstructured":"Pott R. Ein Beitrag zu den Symmetrichen Missbildungen der Finger und Zehen. Jb Kinderheilkd 1884;21:392-4.","journal-title":"Jb Kinderheilkd"},{"issue":"6","key":"ref_6","first-page":"69","article-title":"On inheritance of the deformity known as split foot or lobster claw","volume":"1908","author":"Pearson, K.","unstructured":"Pearson K. On inheritance of the deformity known as split foot or lobster claw. Biometrika 1908;6:69-79.","journal-title":"Biometrika"},{"issue":"14","key":"ref_7","first-page":"176","article-title":"Einstammbaum mit Spalthand","volume":"1922","author":"Fetscher, R.","unstructured":"Fetscher R. Einstammbaum mit Spalthand. Arch Rassan-u Gesellschaft Biologie 1922;14:176-9.","journal-title":"Arch Rassan-u Gesellschaft Biologie"},{"key":"ref_8","first-page":"1707","article-title":"Hered 1937; 28: 174-6. In Barsky AJ. Cleft hand: classification, incidence and treatment","volume":"46","author":"hand. J, Popenoe P.Split","year":"1964","unstructured":"Popenoe P. Split hand. J Hered 1937;28:174-6. In Barsky AJ. Cleft hand: classification, incidence and treatment. J Bone Joint Surg (Am) 1964;46:1707-20.","journal-title":"J Bone Joint Surg (Am)"},{"key":"ref_9","article-title":"Vol 19","volume-title":"English translation by Elizabeth Aageson","author":"Hafniensis","year":"1949","unstructured":"Hafniensis. Vol 19. Copenhagen: Munksgaard, 1949 (English translation by Elizabeth Aageson)."},{"key":"ref_10","first-page":"207","article-title":"Grundsatzlicher uber die Beurteilung der Entstehung und Bewertung atypischer Hand und Fussmissbildungen. Z Orthop 1937; 66: 80-7. '3 Bujdoso G, Lenz W","volume":"133","author":"Lange, M.","year":"1980","unstructured":"Lange M. Grundsatzlicher uber die Beurteilung der Entstehung und Bewertung atypischer Hand und Fussmissbildungen. Z Orthop 1937;66:80-7. '3 Bujdoso G, Lenz W. Monodactylous splithand-splitfoot. Eur J Pediatr 1980;133:207-15.","journal-title":"Monodactylous splithand-splitfoot. Eur J Pediatr"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1093\/oxfordjournals.jhered.a103786","article-title":"Syndactyly with variations","volume":"24","author":"Scott, W.","year":"1933","unstructured":"Scott W. Syndactyly with variations. J Hered 1933;24:241-3.","journal-title":"J Hered"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/oxfordjournals.jhered.a108073","article-title":"Another case of splitfoot mutation in two sibs","volume":"61","author":"Ray, A.K.","year":"1970","unstructured":"Ray AK. Another case of splitfoot mutation in two sibs. J Hered 1970;61:169.","journal-title":"J Hered"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/oxfordjournals.jhered.a108124","article-title":"A recessive form of ectrodactyly, and its implications in genetic counselling","volume":"62","author":"Freire-Maia, A.","year":"1971","unstructured":"Freire-Maia A. A recessive form of ectrodactyly, and its implications in genetic counselling. J Hered 1971;62:53.","journal-title":"J Hered"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1111\/j.1399-0004.1976.tb01543.x","article-title":"Split-hand and splitfoot deformity inherited as an autosomal recessive trait","volume":"9","author":"Verma, I.C.; Joseph, R.; Bhargava, S.; Mehta, S.","year":"1976","unstructured":"Verma IC, Joseph R, Bhargava S, Mehta S. Split-hand and splitfoot deformity inherited as an autosomal recessive trait. Clin Genet 1976;9:8-14.","journal-title":"Clin Genet"},{"key":"ref_15","first-page":"88","article-title":"Two pedigrees of ectrodactyly","volume":"16","author":"Mackenzie, H.J.; Penrose, L.S.","year":"1951","unstructured":"Mackenzie HJ, Penrose LS. Two pedigrees of ectrodactyly. Ann Eugen 1951;16:88-96."},{"issue":"24","key":"ref_16","first-page":"89","article-title":"Ectrodactyly-evidence in favour of a disturbed segregation in the offspring of affected males","volume":"1960","author":"Stevenson, A.C.; Jennings, C.M.","unstructured":"Stevenson AC, Jennings CM. Ectrodactyly-evidence in favour of a disturbed segregation in the offspring of affected males. Ann Hum Genet 1960;24:89-96.","journal-title":"Ann Hum Genet"},{"key":"ref_17","first-page":"1","article-title":"Malformations des mains et des pieds (ectrodactylie a travers cinq generations successive dans une grande famille Vaudoise","volume":"8","author":"Khosrovani, H.","year":"1959","unstructured":"Khosrovani H. Malformations des mains et des pieds (ectrodactylie a travers cinq generations successive dans une grande famille Vaudoise. 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