ISSN:
1432-1076
Keywords:
Malformation syndrome
;
Subvalvular aortic stenosis
;
Corneal clouding
;
Autosomal recessive inheritance
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00538941
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