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Fraser's syndrome
Also known as:
Meyer-Schwickerath's syndrome
Fraser-François syndrome
Ullrich-Feichtiger syndrome
Associated persons:
Heinz Feichtiger
Jules François
George R. Fraser
Gerhard Rudolph Edmund Meyer-Schwickerath
Otto Ullrich
Description:
An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. Other features include alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis. A small number of cases consist of only acrofacial and urogenital malformations without cryptophthalmos. Also skeletal anomalies and mental retardation. Both sexes affected. Occasionally, stillborn. Inheritance is autosomal recessive. An unusual proportion of infants is born to consanguineous parents.
See also Meyer-Schwickerath and Weyers syndrome, or oculodentodigital syndrome, under Gerhard Rudolph Edmund Meyer-Schwickerath, German ophthalmologist, born 1920.
Bibliography:
- W. Zehender:
Eine Missgeburt mit hautüberwachsenen Augen oder Kryptophthalmus.
Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1872, 10: 225-234.
- Adolf Gutmann (1876-):
Einsetiger Kryptophthalmos.
Zentralblatt für praktische Augenheilkunde, 1909, 233: 264.
- S. Zinn:
Cryptophthalmia.
American Journal of Ophthalmology, Chicago, 1955, 40: 219-223.
- G. R. Fraser:
Our genetical "load". A review of some aspects of genetical variation.
Annals of Human Genetics, London, 1962, 25: 387-415.
- Jules François:
Syndrome malformatif avec cryptophthalmie. (Note préliminaire.)
Ophthalmologica, Basel, 1965, 150: 215.
- G. R. Fraser, S. Aymé, F. Halal, et al:
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome.
American Journal of Medical Genetics, New York, 1983; 14: 473-478.
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