Clinical Report Microcephaly, Jejunal Atresia, Aberrant Right Bronchus, Ocular Anomalies, and XY Sex Reversal
نویسندگان
چکیده
Catherine E. Keegan, Eric Vilain, Mansoor Mohammed, Jessica Lehoczky, William B. Dobyns, Steven M. Archer, and Jeffrey W. Innis* Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan Department of Ophthalmology, University of Michigan Medical School, Ann Arbor, Michigan Departments of Human Genetics and Pediatrics, University of California, Los Angeles, California Spectral Genomics, Houston, Texas Departments of Human Genetics, Neurology, and Pediatrics, The University of Chicago, Chicago, Illinois
منابع مشابه
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months reve...
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