{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:58:36Z","timestamp":1773269916493,"version":"3.50.1"},"reference-count":32,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,6]]},"DOI":"10.1136\/jmg.9.2.203","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"203-212","source":"Crossref","is-referenced-by-count":30,"title":["Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes."],"prefix":"10.1136","volume":"9","author":[{"given":"R M","family":"Goodman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M B","family":"Katznelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Manor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1972,6,1]]},"reference":[{"key":"ref_1","article-title":"Landouzy","volume-title":"Von Schmidt","author":"Tamplin","year":"1846","unstructured":"Tamplin (1846) Keen (1882) Landouzy (1906) Von Schmidt (1921) Murphy (1926) Whitman (1930) Spear (1946) Currarino and Waldman"},{"key":"ref_2","article-title":"defect which involves a permanent flexion contracture of the fingers at the proximal interphalangeal joints. In contrast to Dupuytren's contracture, Welch and Temtamy","volume-title":"point out that camptodactyly lacks involvement of the metacarpophalangeal joint, has slower progression with an earlier age of occurrence, and there is absence of camptodactyly may be associated. In considering puckering of the skin with overt palmar involvethese conditions it becomes apparent","author":"that they all ment. Furthermore","year":"1966","unstructured":"defect which involves a permanent flexion contracture of the fingers at the proximal interphalangeal joints. In contrast to Dupuytren's contracture, Welch and Temtamy (1966) point out that camptodactyly lacks involvement of the metacarpophalangeal joint, has slower progression with an earlier age of occurrence, and there is absence of camptodactyly may be associated. In considering puckering of the skin with overt palmar involvethese conditions it becomes apparent that they all ment. Furthermore, camptodactyly should not be display a significant defect in tissues of mesodermal confused with campylodactyly (Hecht and Beals, origin, mainly collagen fibres, muscle, and bone."},{"key":"ref_3","article-title":"which refers to curvature of all fingers at the However, at present the precise alteration is not interphalangeal joints only when the wrist is dorsiknown for any of these disorders","unstructured":"), which refers to curvature of all fingers at the However, at present the precise alteration is not interphalangeal joints only when the wrist is dorsiknown for any of these disorders."},{"key":"ref_4","article-title":"For sake of uniformity and clarity we would With regard to camptodactyly, it is not difficult to agree with Welch and Temtamy","volume-title":"that the conceive that it alone represents some localized original term camptodactyly be used in all cases fitting the description, no matter which digit is indefect in connective tissue synthesis and when part of a syndrome it may reflect a more diffuse disvolved","author":"flexed","year":"1966","unstructured":"flexed. For sake of uniformity and clarity we would With regard to camptodactyly, it is not difficult to agree with Welch and Temtamy (1966) that the conceive that it alone represents some localized original term camptodactyly be used in all cases fitting the description, no matter which digit is indefect in connective tissue synthesis and when part of a syndrome it may reflect a more diffuse disvolved. In almost all cases this abnormality is turbance in tissues of mesodermal origin. Camptobilateral and affects the 5th digit. It may also dactyly as a localized alteration in connective tissue involve the 4th, 3rd, and 2nd digits but rarely the can be noted by the longitudinal bands of thickened"},{"key":"ref_5","article-title":"Following the observations of Parish, Horn, and mer toes) (Welch and Temtamy","volume-title":"order Thompson; and of Nevin, Hurwitz and Neill to produce these pathological changes there must be","year":"1966","unstructured":"Following the observations of Parish, Horn, and mer toes) (Welch and Temtamy, 1966). In order Thompson (1963) and of Nevin, Hurwitz and Neill to produce these pathological changes there must be"},{"key":"ref_6","article-title":"Following the observations of Parish, Horn, and mer toes) (Welch and Temtamy","volume-title":"order Thompson; that in some cases of camptodactyly there some alteration in the production of fibrous tissue","year":"1966","unstructured":"Following the observations of Parish, Horn, and mer toes) (Welch and Temtamy, 1966). In order Thompson (1966) that in some cases of camptodactyly there some alteration in the production of fibrous tissue."},{"key":"ref_7","article-title":"presence of poor muscle development with normal serum muscle enzyme values suggests a muscular hypoplasia rather than a dystrophy. It is of interest that in Maurer's report (1938), of 31 cases with camptodactyly, 22 individuals had 'winging' or elevation of the scapula. This observation coincides well with what was observed in our family A in which both affected persons have 'winging' of the scapula. Again, this finding most probably reflects poor muscular development due to a hypoplasia of muscle tissue. In family B the only suggestion of a muscle disorder is the presence of scoliosis in all 3 affected individuals and this may be skeletal rather than muscular in nature","unstructured":"presence of poor muscle development with normal serum muscle enzyme values suggests a muscular hypoplasia rather than a dystrophy. It is of interest that in Maurer's report (1938), of 31 cases with camptodactyly, 22 individuals had 'winging' or elevation of the scapula. This observation coincides well with what was observed in our family A in which both affected persons have 'winging' of the scapula. Again, this finding most probably reflects poor muscular development due to a hypoplasia of muscle tissue. In family B the only suggestion of a muscle disorder is the presence of scoliosis in all 3 affected individuals and this may be skeletal rather than muscular in nature."},{"key":"ref_8","article-title":"Gordon and his coworkers compiled a table listing the various genetic disorders in which Based on the main clinical findings associated with the various syndromes in which camptodactyly is a part, we would propose that the mutant genes determining these syndromes may produce 3 forms of cellular response: (1) hyperplasia of fibrous tissue, (2) hypoplasia of striated muscle, and (3) dysplasia of bone and cartilage","volume":"8","author":"1969, In","unstructured":"In 1969, Gordon and his coworkers compiled a table listing the various genetic disorders in which Based on the main clinical findings associated with the various syndromes in which camptodactyly is a part, we would propose that the mutant genes determining these syndromes may produce 3 forms of cellular response: (1) hyperplasia of fibrous tissue, (2) hypoplasia of striated muscle, and (3) dysplasia of bone and cartilage. Fig. 8 depicts the possible pathways involved while Table V lists the various syndromes associated with camptodactyly including the 2 described in this paper.","journal-title":"Fig; depicts the possible pathways involved while Table V lists the various syndromes associated with camptodactyly including the 2 described in this paper"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0022-3476(64)80610-7","article-title":"Kindred showing congenital absence of the dermal ridges (fingerprints) and associated anomalies","volume":"64","author":"Baird, H.W.","year":"1964","unstructured":"Baird, H. W. (1964). Kindred showing congenital absence of the dermal ridges (fingerprints) and associated anomalies. Journal of Pediatrics, 64, 621-631.","journal-title":"Journal of Pediatrics"},{"key":"ref_10","first-page":"1312","volume":"92","author":"Currarino, G.; Waldman, I.","year":"1964","unstructured":"Currarino, G. and Waldman, I. (1964). Camptodactyly. American Journal of Roentgenology, 92, 1312-1321.","journal-title":"Camptodactyly. American Journal of Roentgenology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1136\/adc.13.75.277","article-title":"Cranio-carpo-tarsal dystrophy. An undescribed congenital malformation","volume":"13","author":"Freeman, E.A.; Sheldon, J.A.","year":"1938","unstructured":"Freeman, E. A. and Sheldon, J. A. (1938). Cranio-carpo-tarsal dystrophy. An undescribed congenital malformation. Archives of Disease in Childhood, 13, 277-283.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archderm.1970.04000010003001","article-title":"Focal dermal hypoplasia syndrome. A review of the literature and report of two cases","volume":"101","author":"Goltz, R.W.; Henderson, R.R.; Hitch, J.M.; Ott, J.E.","year":"1970","unstructured":"Goltz, R. W., Henderson, R. R., Hitch, J. M., and Ott, J. E. (1970). Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Archives of Dermatology, 101, 1-11.","journal-title":"Archives of Dermatology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1136\/jmg.6.3.266","article-title":"Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomaldominant pattern of inheritance","volume":"6","author":"Gordon, H.; Davies, D.; Berman, M.","year":"1969","unstructured":"Gordon, H., Davies, D., and Berman, M. (1969). Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomaldominant pattern of inheritance. Journal of Medical Genetics, 6, 266-274.","journal-title":"Journal of Medical Genetics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1056\/NEJM196103092641004","article-title":"Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand; Report of four cases in one family and a forme fruste in another","volume":"264","author":"Gorlin, R.J.; Anderson, V.E.; Scott, C.R.","year":"1961","unstructured":"Gorlin, R. J., Anderson, V. E., and Scott, C. R. (1961). Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand; Report of four cases in one family and a forme fruste in another. New EnglandJournal of Medicine, 264, 486-489.","journal-title":"New EnglandJournal of Medicine"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0022-3476(63)80304-2","article-title":"Oculodentodigital dysplasia","volume":"63","author":"Gorlin, R.J.; Meskin, L.H.; St Geme, J.W.","year":"1963","unstructured":"Gorlin, R. J., Meskin, L. H., and St Geme, J. W. (1963). Oculodentodigital dysplasia. Journal of Pediatrics, 63, 69-75.","journal-title":"Journal of Pediatrics"},{"key":"ref_16","first-page":"96","article-title":"Inability to open the mouth fully: An autosomal dominant phenotype with facultative campylodactyly and short stature. Birth Defects: Original Articles","volume":"3","author":"Hecht, F.; Beals, R.F.","year":"1969","unstructured":"Hecht, F. and Beals, R. F. (1969). Inability to open the mouth fully: An autosomal dominant phenotype with facultative campylodactyly and short stature. Birth Defects: Original Articles Series, V, 3, 96. The National Foundation-March of Dimes, New York.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_17","first-page":"370","article-title":"The etiology and pathology of Dupuytren's contracture of the fingers","volume":"12","author":"Keen, W.W.","year":"1882","unstructured":"Keen, W. W. (1882). The etiology and pathology of Dupuytren's contracture of the fingers. Philadelphia Medical Times, 12, 370-378.","journal-title":"Philadelphia Medical Times"},{"key":"ref_18","first-page":"251","article-title":"Camptodactylie: stigmate organique precoce du neuroarthritisme","volume":"14","author":"Landouzy, L.","year":"1906","unstructured":"Landouzy, L. (1906). Camptodactylie: stigmate organique precoce du neuroarthritisme. Presse Medicale, 14, 251.","journal-title":"Presse Medicale"},{"key":"ref_19","article-title":"Heritable Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1966","unstructured":"McKusick, V. A. (1966). Heritable Disorders of Connective Tissue, 3rd ed. C. V. Mosby, St Louis.","edition":"3rd ed"},{"key":"ref_20","article-title":"Mendelian Inheritance in Man","author":"McKusick, V.A.","year":"1968","unstructured":"McKusick, V. A. (1968). Mendelian Inheritance in Man, 2nd ed. Johns Hopkins, Baltimore.","edition":"2nd ed"},{"key":"ref_21","first-page":"306","article-title":"Dwarfism in the Amish: I The Ellis-van Creveld syndrome","volume":"115","author":"McKusick, V.A.; Egeland, J.A.; Eldridge, R.; Krusen, D.E.","year":"1964","unstructured":"McKusick, V. A., Egeland, J. A., Eldridge, R., and Krusen, D. E. (1964). Dwarfism in the Amish: I The Ellis-van Creveld syndrome. Bulletin of the Johns Hopkins Hospital, 115, 306-336.","journal-title":"Bulletin of the Johns Hopkins Hospital"},{"key":"ref_22","first-page":"365","volume":"39","author":"Maurer, G.","year":"1938","unstructured":"Maurer, G. (1938). Die Kamptodaktylie. Archiv fur Orthopadische und Unfall-Chirurgie, 39, 365-374."},{"key":"ref_23","first-page":"594","article-title":"Zur Klinik des Nielson-Syndroms","volume":"150","author":"Moldenhauer, E.","year":"1964","unstructured":"Moldenhauer, E. (1964). Zur Klinik des Nielson-Syndroms. Dermatologische Wochenschrift, 150, 594-601.","journal-title":"Dermatologische Wochenschrift"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1001\/jama.1926.02670320009004","article-title":"Familial finger contracture and associated familial knee-joint subluxation","volume":"86","author":"Murphy, D.P.","year":"1926","unstructured":"Murphy, D. P. (1926). Familial finger contracture and associated familial knee-joint subluxation. Journal of the American Medical Association, 86, 395-396.","journal-title":"Journal of the American Medical Association"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmg.3.4.265","article-title":"Familial camptodactyly with taurinuria","volume":"3","author":"Nevin, N.C.; Hurwitz, L.J.; Neill, D.W.","year":"1966","unstructured":"Nevin, N. C., Hurwitz, L. J., and Neill, D. W. (1966). Familial camptodactyly with taurinuria. Journal of Medical Genetics, 3, 265-268.","journal-title":"Journal of Medical Genetics"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1136\/bmj.2.5367.1247","article-title":"Familial streblodactyly with amino-aciduria","volume":"2","author":"Parish, J.G.; Horn, D.B.; Thompson, M.","year":"1963","unstructured":"Parish, J. G., Horn, D. B., and Thompson, M. (1963). Familial streblodactyly with amino-aciduria. 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