Aarskog syndrome. New findings and genetic analysis.
A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000748:Anemia, Macrocytic / Q000175:diagnosis; D001827:Body Height; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008171:Lung Diseases / Q000150:complications; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis; D010375:Pedigree; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome