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Fryns-Van den Berghe syndrome
Also known as:
Onat's syndrome
Peters' anomaly-corneal clouding-growth and mental retardation syndrome
Synonyms:
Aortic stenosis-corneal clouding-growth and mental retardation syndrome, subaortic stenosis-short stature syndrome.
Associated persons:
Jean-Pierre Fryns
Taner Onat
Herman Van den Berghe
Description:
A familial syndrome of mental and somatic retardation with Peters' anomaly (defect of the Descemet membrane and deep stromal layers of the cornea), corneal clouding, hypoplastic facies, subvalvular aortic stenosis, and skeletal abnormalities. The syndrome was originally reported in male and female children of consanguineous parents. Inheritance is autosomal recessive.
Bibliography:
- J. P. Fryns, H. van den Berghe:
Corneal clouding, subvalvular aortic stenosi, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome?.
European Journal of Pediatrics, Berlin, 1979, 131: 179-183.
- A. Onat, T. Onat, N. Domaniç:
Discrete subaortic stenosis as part of a short stature syndrome.
Human Genetics, Berlin, February 1984, 65 (4): 331-335.
- K. Devriendt, P. Moerman, D. Van Schoubroeck, K. Vandenberghe, J. P. Fryns:
Chromosome 22q11 deletion presenting as the Potter sequence.
American Journal of Medical Genetics, New York, 1997, 34 (5): 423-425.
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