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Trélat's syndrome

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A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities, often associated with mental retardation. Typical findings include fistulas of the lower lip and creased skin on the back of the leg. Inheritance is probably autosomal dominant with variable expressivity and incomplete penetrance.

Early descriptions by Trélat in 1869 and Karl Basch (1859-1913) in 1891. The syndrome was more exactly defined by, among others, Robert J. Gorlin.


  • U. Trélat:
    Sur un vice conformation trés rare de la lévre inférieure.
    Journal de médecine et de chirurgie pratiques, Paris, 1869, 40: 442.
  • K. Basch:
    Über sogenannte Flughautbildung im Menschen.
    Prager medicinische Wochenshrift, Prague, 1891, 16: 572-573.
  • E. Kopits:
    Die als “Flughaut” bezeichnete Missbildungen und deren operative Behandlung. (Musculo-dysplasia congenita.)
    Archiv für orthopädische und Unfallchirurgie, Berlin, 1936-1937, 37: 539-549.
  • T. Matolcsy:
    Über die chirurgische Behandlung der angeborenen Flughaut.
    Archiv für klinische Chirurgie, Berlin, 1936, 185: 675-681.
  • D. Klein:
    Un curieux syndrome héréditaire: cheilo-palatoschizis avec fistules de la lévre inferieure associée à une syndactylie, une onychodysplasie particulière, un ptérygion poplité unilatéral et des pieds varus équins.
    Journal de genetique humaine, Geneva, 1962, 11: 65-71.
  • R. Champion, J. C. F. Cregan:
    Congenital poplietal webbing in siblings.
    Journal of Bone and Joint Surgery, British Volume, London, 1959, 41-B: 355-357.
  • M. Fèvre, A. Languepin:
    Les brides cruro-jambieres contenant le nerf sciatique. Le syndrome brides poplitées et malformations multiples (division palatine, fistules de la lèvre inferieure, syndactylie des orteils). La presse médicale, Paris, 1962, 70: 615-618,
  • R. J. Gorlin, J. J. Pindborg:
    Syndromes of the head and neck.
    McGraw-Hill, New York, 1964, page 38.
  • F. Hecht, J. M. Jarvinen:
    Heritable dysmorphic syndrome with normal intelligence.
    Journal of Pediatrics, St. Louis, 1967, 70: 927-935.
  • R. J. Gorlin, H. O. Seldano, J. Cervenka:
    Popliteal pterygiym syndrome: a syndrome comprising cleft lip-palate, poplitetal and intracrural pterygia, digital and genital anomalies.
    Pediatrics, Evanston, Illinois, 1968, 41: 503-509.

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