{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:38:37Z","timestamp":1787017117480,"version":"build-2736575974"},"reference-count":37,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,2]]},"abstract":"<jats:p>Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5).<\/jats:p>","DOI":"10.1136\/jmg.15.1.35","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"35-42","source":"Crossref","is-referenced-by-count":42,"title":["Popliteal pterygium syndrome: a phenotypic and genetic analysis."],"prefix":"10.1136","volume":"15","author":[{"given":"V","family":"Escobar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1978,2,1]]},"reference":[{"key":"ref_1","first-page":"21","article-title":"Flughautbildung zwischen oberund Unterschenkel mit abnomer","volume":"67","author":"Aberle-Horstenegg, W.","year":"1937","unstructured":"Aberle-Horstenegg, W. (1937). Flughautbildung zwischen oberund Unterschenkel mit abnomer muskelbildung. Zeitschrift fur Orthopddie und ihre Grenzgebeite, 67, 21-29."},{"key":"ref_2","first-page":"22","article-title":"Ectopic scrotum: a case report","author":"Bajaj, P.S.; Bailey, B.","year":"1969","unstructured":"Bajaj, P. S., and Bailey, B. (1969). Ectopic scrotum: a case report. British Journal ofPlastic Surgery, 22,87-89.","journal-title":"British Journal ofPlastic Surgery"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1136\/jmg.9.2.222","article-title":"Popliteal pterygium syndrome","volume":"9","author":"Bartsocas, C.S.; Papas, C.V.","year":"1972","unstructured":"Bartsocas, C. S., and Papas, C. V. (1972). Popliteal pterygium syndrome. Journal ofMedical Genetics, 9, 222-226.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_4","article-title":"Oeber Sogenannte Flughautbildung am","author":"Basch, K.","year":"1891","unstructured":"Basch, K. (1891). Oeber Sogenannte Flughautbildung am"},{"key":"ref_5","first-page":"289","article-title":"Ein weiterer Fall von sog","volume":"17","author":"Basch, K.","year":"1892","unstructured":"Basch, K. (1892). Ein weiterer Fall von sog. Flughautbildung. Prager medizinische Wochenschrift, 17, 289-291.","journal-title":"Flughautbildung. Prager medizinische Wochenschrift"},{"key":"ref_6","first-page":"4","article-title":"Phenotypic variation in the popliteal pterygium syndrome","author":"Bixler, D.; Poland, C.; Nance, W.E.","year":"1973","unstructured":"Bixler, D., Poland, C., and Nance, W. E. (1973). Phenotypic variation in the popliteal pterygium syndrome. Clinical Genetics, 4,220-228.","journal-title":"Clinical Genetics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1302\/0301-620X.41B2.355","article-title":"Congenital popliteal webbing in siblings: report of two cases","volume":"418","author":"Champion, R.; Cregan, J.C.F.","year":"1959","unstructured":"Champion, R., and Cregan, J. C. F. (1959). Congenital popliteal webbing in siblings: report of two cases. Journal of Bone and Joint Surgery, 418, 355-359.","journal-title":"Journal of Bone and Joint Surgery"},{"key":"ref_8","series-title":"PHS publication No","first-page":"23","article-title":"Problems in the ascertainment in the analysis of family data. In Genetics and Epidemiology of Chronic Diseases","volume":"1163","author":"Crow, J.","year":"1973","unstructured":"Crow, J. (1973). Problems in the ascertainment in the analysis of family data. In Genetics and Epidemiology of Chronic Diseases. Ed. by J. W. Neal. US Department of Health, Education and Welfare. PHS publication No. 1163, pp. 23-44, 1945."},{"key":"ref_9","first-page":"112","article-title":"Ueber die versorgung einer doppelseitigen Kniestreck-hemmung wegen Flugefell mit einem provisorischen Knie-Ruhebein. Zeitschrift fir Orthopddie und ihre","volume":"95","author":"Dahmen, G.","year":"1961","unstructured":"Dahmen, G. (1961). Ueber die versorgung einer doppelseitigen Kniestreck-hemmung wegen Flugefell mit einem provisorischen Knie-Ruhebein. Zeitschrift fir Orthopddie und ihre Grenzgebeite, 95, 112-113.","journal-title":"Grenzgebeite"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/j.1469-1809.1974.tb01996.x","article-title":"A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome","volume":"38","author":"Erickson, J.D.; Cohen, M.M.","year":"1974","unstructured":"Erickson, J. D., and Cohen, M. M. (1974). A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome. Annals ofHuman Genetics, 38, 89-96.","journal-title":"Annals ofHuman Genetics"},{"key":"ref_11","first-page":"615","article-title":"Les brides cruro-Jambieires contenant le nerf sciatique. Le syndrome bride poplitee et malformations multiples","volume":"70","author":"Fevre, M.; Languepin, A.","year":"1962","unstructured":"Fevre, M., and Languepin, A. (1962). Les brides cruro-Jambieires contenant le nerf sciatique. Le syndrome bride poplitee et malformations multiples. Presse Medicale, 70, 615-618.","journal-title":"Presse Medicale"},{"key":"ref_12","first-page":"18","article-title":"Ein Fall von sogennanter. Flughautbildung Zwischen oberund unterschenkel. Prager medizinische Wochenschrift","author":"Fischer, H.","year":"1893","unstructured":"Fischer, H. (1893). Ein Fall von sogennanter. Flughautbildung Zwischen oberund unterschenkel. Prager medizinische Wochenschrift, 18,579-581."},{"key":"ref_13","first-page":"90","article-title":"Popliteal pterygium syndrome: report of a family","author":"Frohlic, G.S.; Starzer, K.L.; Tortora, J.M.","year":"1977","unstructured":"Frohlic, G. S., Starzer, K. L., and Tortora, J. M. (1977). Popliteal pterygium syndrome: report of a family. Journal of Pediatrics, 90,91-93.","journal-title":"Journal of Pediatrics"},{"key":"ref_14","first-page":"38","article-title":"Syndromes of the Head and Neck","author":"Gorlin, R.J.; Pindborg, J.J.","year":"1964","unstructured":"Gorlin, R. J., and Pindborg, J. J. (1964). Syndromes of the Head and Neck, p. 38. McGraw-Hill, New York."},{"key":"ref_15","article-title":"Syndromes ofthe Head and Neck","author":"Gorlin, R.J.; Pindborg, J.J.; Cohen, M.M.","year":"1976","unstructured":"Gorlin, R. J., Pindborg, J. J., and Cohen, M. M. (1976). Syndromes ofthe Head and Neck, 2nd ed. McGraw-Hill, New York.","edition":"2nd ed"},{"key":"ref_16","first-page":"41","article-title":"Popliteal pterygium syndrome","author":"Gorlin, R.J.; Sedano, H.O.; Cervenka, J.","year":"1968","unstructured":"Gorlin, R. J., Sedano, H. O., and Cervenka, J. (1968). Popliteal pterygium syndrome. Pediatrics, 41,503-509.","journal-title":"Pediatrics"},{"key":"ref_17","first-page":"508","article-title":"Oeber einen fail von kongenitaler kontraktur der Kniegelenke mit flughautbildung. Zeitschrift far Orthopddie und ihre","volume":"43","author":"Hackenbroch, M.","year":"1924","unstructured":"Hackenbroch, M. (1924). Oeber einen fail von kongenitaler kontraktur der Kniegelenke mit flughautbildung. Zeitschrift far Orthopddie und ihre Grenzgebeite, 43, 508-524.","journal-title":"Grenzgebeite"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0022-3476(67)80265-8","article-title":"Heritable dysmorphic syndrome with normal intelligence","volume":"70","author":"Hecht, F.; Jarvine, J.M.","year":"1967","unstructured":"Hecht, F., and Jarvine, J. M. (1967). Heritable dysmorphic syndrome with normal intelligence. Journal of Pediatrics, 70, 927-935.","journal-title":"Journal of Pediatrics"},{"key":"ref_19","first-page":"508","article-title":"Poplitealis pterygium syndrome","volume":"25","author":"Kind, H.P.","year":"1970","unstructured":"Kind, H. P. (1970). Poplitealis pterygium syndrome. Helvetica Paediatrica Acta, 25, 508-516.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_20","first-page":"11","article-title":"Un curieux syndrome h6reditaire: cheilopalatoschizis avec fistules de la levre inferievre associe a une syndactylie, une onychodysplasie particuliere, un pt6rygion poplite uniterale et des pieds varus equins","volume":"Humaine,","author":"Klein, D.","year":"1962","unstructured":"Klein, D. (1962). Un curieux syndrome h6reditaire: cheilopalatoschizis avec fistules de la levre inferievre associe a une syndactylie, une onychodysplasie particuliere, un pt6rygion poplite uniterale et des pieds varus equins. Journal de Ginitique Humaine, 11,65-71.","journal-title":"Journal de Ginitique"},{"key":"ref_21","first-page":"37","article-title":"Die als 'Flughaut' bezeichneten Missbilding und deren operative Behandlung. Archiv Far orthopddische und Unfall-Chirurgie","author":"Kopits, E.","year":"1937","unstructured":"Kopits, E. (1937). Die als 'Flughaut' bezeichneten Missbilding und deren operative Behandlung. Archiv Far orthopddische und Unfall-Chirurgie, 37,529-549."},{"key":"ref_22","first-page":"864","article-title":"Congenital webbing of the lower limbs","volume":"41","author":"Lewis, E.","year":"1948","unstructured":"Lewis, E. (1948). Congenital webbing of the lower limbs. Proceedings of the Royal Society ofMedicine, 41, 864-865.","journal-title":"Proceedings of the Royal Society ofMedicine"},{"key":"ref_23","article-title":"Mendelian Inheritance in Man","author":"McKusick, V.A.","year":"1975","unstructured":"McKusick, V. A. (1975). Mendelian Inheritance in Man, 4th ed.","edition":"4th ed"},{"key":"ref_24","first-page":"379","article-title":"Die angeborene Flughautbildung und ihre Konservative Behandlung. Zeitschrit? far Orthopddie und ihre","volume":"67","author":"Press, Johns Hopkins; Baltimore; London","year":"1937","unstructured":"Johns Hopkins Press, Baltimore and London. Marquardt (1937). Die angeborene Flughautbildung und ihre Konservative Behandlung. Zeitschrit? far Orthopddie und ihre Grenzgebeite, 67, 379-386.","journal-title":"Marquardt"},{"key":"ref_25","first-page":"675","article-title":"Veber die chirurgische Behandlung der angeborenen Flughaut","volume":"185","author":"Matolcsy, T.","year":"1936","unstructured":"Matolcsy, T. (1936). Veber die chirurgische Behandlung der angeborenen Flughaut. Archivfar klinische Chirurgie, 185, 675-681.","journal-title":"Archivfar klinische Chirurgie"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1111\/j.1469-1809.1970.tb01648.x","article-title":"Anchondroplasia-a genetic and statistical survey","volume":"33","author":"Murdoch, J.L.; Walker, A.A.; Hall, J.G.; Abbey, H.; Smith, K.K.; McKusick, V.A.","year":"1970","unstructured":"Murdoch, J. L., Walker, A. A., Hall, J. G., Abbey, H., Smith, K. K., and McKusick, V. A. (1970). Anchondroplasia-a genetic and statistical survey. Annals ofHuman Genetics, 33, 227-244.","journal-title":"Annals ofHuman Genetics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1016\/0030-4220(61)90243-2","article-title":"Congenital sinuses of the lower lip","volume":"14","author":"Newman, Z.; Shulman, J.","year":"1961","unstructured":"Newman, Z., and Shulman, J. (1961). Congenital sinuses of the lower lip. Oral Surgery, Oral Medicine and Oral Pathology, 14, 1415-1420.","journal-title":"Oral Surgery, Oral Medicine and Oral Pathology"},{"key":"ref_28","first-page":"252","article-title":"Popliteal pterygium syndrome","volume":"5","author":"Pashayan, H.; Battle, C.V.; Pruzansky, S.","year":"1974","unstructured":"Pashayan, H., Battle, C. V., and Pruzansky, S. (1974). Popliteal pterygium syndrome. In Limb Malformations, Ed. by D. Bergsma. Birth Defects: Original Article Series, X(5), 252-256.","journal-title":"Birth Defects: Original Article Series"},{"key":"ref_29","first-page":"103","article-title":"Das Kniepterygium syndrom. Ein autosomal dominant verebtes Missbildungssyndrom","volume":"108","author":"Pfeiffer, R.A.","year":"1970","unstructured":"Pfeiffer, R. A. (1970). Das Kniepterygium syndrom. Ein autosomal dominant verebtes Missbildungssyndrom. Zeitschri(f far Kinderheilkunde, 108, 103-116.","journal-title":"Zeitschri(f far Kinderheilkunde"},{"key":"ref_30","first-page":"4","article-title":"The facio-genito-popliteal syndrome","author":"Rintala, A.; Lahti, A.","year":"1970","unstructured":"Rintala, A., and Lahti, A. (1970). The facio-genito-popliteal syndrome. Scandinavian Journal of Plastic and Reconstructive Surgery, 4,67-71.","journal-title":"Scandinavian Journal of Plastic and Reconstructive Surgery"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/S0007-1226(61)80036-2","article-title":"Eotodermal dysplasia","volume":"14","author":"Rosselli, D.; Gulienetti, R.","year":"1961","unstructured":"Rosselli, D., and Gulienetti, R. (1961). Eotodermal dysplasia. British Journal ofPlastic Surgery, 14, 190-204.","journal-title":"British Journal ofPlastic Surgery"},{"key":"ref_32","first-page":"769","article-title":"Demonstration von abbildungen seltener falle von Missbildungen","volume":"42","author":"Rydgier, L.","year":"1891","unstructured":"Rydgier, L. (1891). Demonstration von abbildungen seltener falle von Missbildungen. Archivfar klinische Chirugie, 42, 769.","journal-title":"Archivfar klinische Chirugie"},{"key":"ref_33","first-page":"76","article-title":"OYeber die Kombination von Lippen-KieferGaumen-Spalten mit Extremitaten missbildungen. Zeitschrift fr Kinderheilkunde","author":"Sch6nenberg, H.","year":"1955","unstructured":"Sch6nenberg, H. (1955) OYeber die Kombination von Lippen-KieferGaumen-Spalten mit Extremitaten missbildungen. Zeitschrift fr Kinderheilkunde, 76,79-90."},{"key":"ref_34","article-title":"Ueber die angeborene Flughautbildung","author":"Schram, G.","year":"1940","unstructured":"Schram, G. (1940). Ueber die angeborene Flughautbildung."},{"key":"ref_35","first-page":"442","article-title":"Sur un vice conformation tres-rare de la Levreinferieure","volume":"40","author":"Trelat, U.","year":"1869","unstructured":"Trelat, U. (1869). Sur un vice conformation tres-rare de la Levreinferieure. Journal de Medecine et de Chirurgie Pratiques, 40, 442-445.","journal-title":"Journal de Medecine et de Chirurgie Pratiques"},{"key":"ref_36","article-title":"Mathematische grundlagen der Probandenmethode. Zeitschri\/t fir induktive Abstemmungsund","author":"Weinberg, W.","year":"1927","unstructured":"Weinberg, W. (1927). Mathematische grundlagen der Probandenmethode. Zeitschri\/t fir induktive Abstemmungsund"},{"key":"ref_37","first-page":"38","article-title":"Oeber einen fall von angeborener Flughautbildung. Archivfu-r klinische Chirurgie","author":"Wolff, F.","year":"1889","unstructured":"Wolff, F. (1889). Oeber einen fall von angeborener Flughautbildung. Archivfu-r klinische Chirurgie, 38,66-73."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.1.35","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:38:57Z","timestamp":1760765937000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.1.35"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,2]]},"references-count":37,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1978,2,1]]},"published-print":{"date-parts":[[1978,2]]}},"alternative-id":["10.1136\/jmg.15.1.35"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.1.35","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,2]]}}}