Trauner-Rieger syndrome

A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. They include iliac horns, dystrophy of the nails, anomaly of the patellae, and chondrodysplasia and arthrodysplasia, especially of elbows. The nails of the thumbs are most frequently involved. Abnormalities, usually symmetrical, range from slight longitudinal ridging to complete anonychia.

Hypoplasia of the capitellum and radial head results in dislocations and inability to fully extend, pronate, or supinate the elbow. The patellae are often smaller than normal or completely absent. The iliac horns, always bilaterally symmetrical, project from the central area of the external iliac fossa. Other frequent features are a dark cloverleaf area of pigmentation around inner margin of iris, clubfoot, hypoplastic scapula, sometimes mental defectiveness and proteinuria with or without hematuria. Of all sufferers from this syndrome, 40% develop renal disease, and of those 25% progress to renal failure. Associated hand abnormalities may include clinodactyly of the fifth fingers, short middle phalanges, and short third to fifth metacarpals. Usually not discovered until second or third decade, but iliac horns are present from infancy. Males and females equally affected. Etiology unknown. Inheritance is autosomal dominant. Study of the genealogic tree of one patient revealed that 30 relatives in four generations exhibited these defects (Senturia and Senturia).

Chatelain is said to have discovered the disorder as early as 1820. Although various writers have since described combinations of these abnormalities, the term Turner's syndrome is most commonly used. It is entered here under Trauner-Rieger because of priority.

• E. M. Little:
  Congenital absence or delayed development of patella.
  Lancet, London, 1897, 2: 781-784.
• R. Trauner, H. Rieger:
  Eine Familie mit 6 Fällen von Luxation radii congenita mit übereinstimmenden anomalien der Finger- und Kniegelenke, sowie der Nagelbildung in 4 Generationen.
  Archiv für klinische Chirurgie, Berlin, 1925, 137: 659-666.
• W. Österreicher:
  Nägel- und Skelettanomalien.
  Wiener klinische Wochenschrift, 1929, 43: 632.
• E. E. Fong:
  “Iliac horns” (symmetrical bilateral central posterior iliac processes).
  Radiology, Easton, Pennsylvania, 1946, 47: 517-518.
• J. W. Turner:
  A hereditary arthrodysplasia associated with hereditary dystrophy of nails.
  Journal of the American Medical Association, Chicago, 1933, 100: 882-884.
• W. Kieser:
  Die sogenannte Flughaut beim Menschen. Ihre Beziehung zum Status dysraphicus und ihre Erblichkeit (Darstellung an der Sippe Fr.).
  Zeitschrift für menschliche Vererbungs- und Konstitutionslehre, 1939, 23: 594-616.
• H. Senturia, B. Senturia, in:
  American Journal of Roentgenology, Leesburg, Virginia, 1944, 51: 352.
• Stanley Jablonski:
  Jablonski¹s Dictionary of Syndromes & Eponymic diseases.
  Krieger Publishing Company, Malabar, Florida, 1991. Page 608.