[Two sisters with major gonadal dysgenesis, dwarfism, microcephaly, arachnodactyly, and normal karyotype 46, XX].
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D012734:Disorders of Sex Development / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006066:Gonads / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology; D008831:Microcephaly / Q000235:genetics; D012728:Sex Chromatin; D014424:Turner Syndrome / Q000473:pathology
Deux soeurs avec dysgénésie gonadique majeure, hypotrophie staturale, microcéphalie, arachnodactylie et caryotype 46, X.