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Langer-Giedion syndrome
Also known as:
Alè-Calò syndrome
Klingmüller’s syndrome
Associated persons:
G. Alè
S. Calò
Andreas Giedion
Viktor Felix Karl Klingmüller
Leonard O. Langer Jr.
Description:
Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from birth. Both sexes affected.
Bibliography:
- G. Alè, S. Calò:
Su di un caso di disostosi periferica associata con esostosi osteogeniche multiple ed ipossomia disuniforme disarmonica.
Annali di radiologia diagnostica, 1961, 34: 376-385.
- A. Giedion:
Das tricho-rhino-phalangeale Syndrom.
Helvetica Paediatrica Acta, Basel, 1966, 21: 475.
Die periphere Dysostose (PD) - ein Sammelbegriff.
Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin, 1969, 110: 507-524.
Autosomal dominant transmissions of the tricorhino-phalangeal syndrome.
Helvetica Paediatrica Acta, Basel, 1973, 28: 249-259.
- L. O. Langer Jr:
The thoracic-pelvic-phalangeal dystrophy.
Radiology, Easton, Pennsylvania, 1968; 91: 447-456.
Birth Defects Origina, Aarticle Seriers, 1969; 5(4):218-219.
- B. D. Hall, L. O. Langer Jr, A. Giedion, D.W. Smith, M.M. Cohen, R.K. Beals, M. Brandner:
Langer-Giedion syndrome.
Birth Defects Original Article Series, New York, 1974, 10(12): 147-164.
- L. O. Langer Jr, N. Krasikoff, R. Laxova, et al:
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.
American Journal of Medical Genetics, New York, 1984, 19: 81-112.
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