{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T10:17:06Z","timestamp":1784888226262,"version":"3.55.0"},"reference-count":64,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,8]]},"abstract":"<jats:p>Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic. TPT is associated with a number of specific malformations of the hand or foot, several of which have a well documented autosomal dominant pattern of inheritance. TPT is a feature of a number of specific syndromes. In this setting it may be associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung hypoplasia or agenesis, anorectal malformations, sensorineural hearing loss, onychodystrophy, mental retardation, and other disorders. TPT serves as a useful marker in such patients; in conjunction with the clinical and radiological findings, it can help to establish the correct diagnosis, leading to appropriate management and genetic counselling.<\/jats:p>","DOI":"10.1136\/jmg.25.8.505","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"505-520","source":"Crossref","is-referenced-by-count":28,"title":["Triphalangeal thumb."],"prefix":"10.1136","volume":"25","author":[{"given":"Q","family":"Qazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E G","family":"Kassner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,8,1]]},"reference":[{"key":"ref_1","article-title":"According to this hypothesis, advanced by Joachimsthal': 5 in 1900, TPT may be considered a form of polydactyly in which an absent thumb is replaced by an extra first digit. The resultant 'thumb' resembles a little finger (fifth digit) both clinically and radiographically (fig 2). Nor is it functionally equivalent to a normal thumb, as it lacks the specialised musculature of the thenar instances more than one triphalangeal digit occurs in eminence and is non-opposable. (Normal opposition the position of the absent thumb.'7 A small percenand a nearly normal appearance of the hand can be tage of cases of TPT might be explained by the achieved by pollicisation procedures","unstructured":"According to this hypothesis, advanced by Joachimsthal':5 in 1900, TPT may be considered a form of polydactyly in which an absent thumb is replaced by an extra first digit. The resultant 'thumb' resembles a little finger (fifth digit) both clinically and radiographically (fig 2). Nor is it functionally equivalent to a normal thumb, as it lacks the specialised musculature of the thenar instances more than one triphalangeal digit occurs in eminence and is non-opposable. (Normal opposition the position of the absent thumb.'7 A small percenand a nearly normal appearance of the hand can be tage of cases of TPT might be explained by the achieved by pollicisation procedures."},{"key":"ref_2","first-page":"115","article-title":"The thumb in the congenital malformation syndromes","volume":"100","author":"Poznanski, A.K.; Garn, S.M.; Holt, J.F.","year":"1971","unstructured":"Poznanski AK, Garn SM, Holt JF. The thumb in the congenital malformation syndromes. Pediatr Radiol 1971;100:115-29.","journal-title":"Pediatr Radiol"},{"key":"ref_3","article-title":"The hand in radiologic diagnosis with gamuts and profile patterns","author":"Poznanski, A.K.","year":"1984","unstructured":"Poznanski AK. The hand in radiologic diagnosis with gamuts and profile patterns. Philadelphia: WB Saunders, 1984."},{"key":"ref_4","first-page":"285","article-title":"Hyperphalangism. 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