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. 1978 Feb;15(1):35–42. doi: 10.1136/jmg.15.1.35

Popliteal pterygium syndrome: a phenotypic and genetic analysis.

V Escobar, D Weaver
PMCID: PMC1012821  PMID: 633318

Abstract

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).

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Selected References

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  1. Bajaj P. S., Bailey B. N. Ectopic scrotum--a case report. Br J Plast Surg. 1969 Jan;22(1):87–89. doi: 10.1016/s0007-1226(69)80096-2. [DOI] [PubMed] [Google Scholar]
  2. Bartsocas C. S., Papas C. V. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. J Med Genet. 1972 Jun;9(2):222–226. doi: 10.1136/jmg.9.2.222. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bixler D., Poland C., Nance W. E. Phenotypic variation in the popliteal pterygium syndrome. Clin Genet. 1973;4(3):220–228. doi: 10.1111/j.1399-0004.1973.tb01146.x. [DOI] [PubMed] [Google Scholar]
  4. CHAMPION R., CREGAN J. C. Congenital popliteal webbing in siblings; a report of two cases. J Bone Joint Surg Br. 1959 May;41-B(2):355–357. doi: 10.1302/0301-620X.41B2.355. [DOI] [PubMed] [Google Scholar]
  5. Erickson J. D., Cohen M. M., Jr A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome. Ann Hum Genet. 1974 Jul;38(1):89–96. doi: 10.1111/j.1469-1809.1974.tb01996.x. [DOI] [PubMed] [Google Scholar]
  6. FEVRE M., LANGUEPIN A. [Webbing of the thighs and legs containing the sciatic nerve. The popliteal webbing syndrome and multiple malformations. (Cleft palate, fistulas of the lower lip, syndactylia of the toes)]. Presse Med. 1962 Mar 17;70:615–618. [PubMed] [Google Scholar]
  7. Frohlich G. S., Starzer K. L., Tortora J. M. Popliteal pterygium syndrome: report of a family. J Pediatr. 1977 Jan;90(1):91–93. doi: 10.1016/s0022-3476(77)80775-0. [DOI] [PubMed] [Google Scholar]
  8. Gorlin R. J., Sedano H. O., Cervenka J. Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics. 1968 Feb;41(2):503–509. [PubMed] [Google Scholar]
  9. Hecht F., Jarvinen J. M. Heritable dysmorphic syndrome with normal intelligence. J Pediatr. 1967 Jun;70(6):927–937. doi: 10.1016/s0022-3476(67)80265-8. [DOI] [PubMed] [Google Scholar]
  10. KLEIN D. [An observed case: a curious hereditary syndrome cheilopalatoschisis with fistulas of the lower lip so associated with syndactyly, a peculiar onychoplasia, unilateral popliteal pterygium and pes varus equinus]. J Genet Hum. 1962 Mar;11:65–71. [PubMed] [Google Scholar]
  11. Kind H. P. Popliteales Pterygiumsyndrom. Helv Paediatr Acta. 1970 Nov;25(5):508–516. [PubMed] [Google Scholar]
  12. Murdoch J. L., Walker B. A., Hall J. G., Abbey H., Smith K. K., McKusick V. A. Achondroplasia--a genetic and statistical survey. Ann Hum Genet. 1970 Jan;33(3):227–244. doi: 10.1111/j.1469-1809.1970.tb01648.x. [DOI] [PubMed] [Google Scholar]
  13. NEUMAN Z., SHULMAN J. Congenital sinuses of the lower lip. Oral Surg Oral Med Oral Pathol. 1961 Dec;14:1415–1420. doi: 10.1016/0030-4220(61)90243-2. [DOI] [PubMed] [Google Scholar]
  14. Pashayan H., Bahle C. U., Pruzansky S. P--popliteal pterygium syndrome. Birth Defects Orig Artic Ser. 1974;10(5):252–256. [PubMed] [Google Scholar]
  15. Pfeiffer R. A., Tünte W., Reinken M. Das Kniepterygium-Syndrom. Ein autosomal-dominant vererbtes Missbildungssyndrom. Z Kinderheilkd. 1970;108(2):103–116. [PubMed] [Google Scholar]
  16. ROSSELLI D., GULIENETTI R. Ectodermal dysplasia. Br J Plast Surg. 1961 Oct;14:190–204. doi: 10.1016/s0007-1226(61)80036-2. [DOI] [PubMed] [Google Scholar]
  17. Rintala A., Lahti A. The facio-genito-popliteal syndrome. Case report. Scand J Plast Reconstr Surg. 1970;4(1):67–71. doi: 10.3109/02844317009038446. [DOI] [PubMed] [Google Scholar]

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