نتایج جستجو برای: microtia
تعداد نتایج: 373 فیلتر نتایج به سال:
OBJECTIVES/HYPOTHESIS To fully describe the otologic features seen in individuals with deletions of the distal long arm of chromosome 18 (distal 18q-). STUDY DESIGN Cross-sectional/observational. METHODS More than 200 individuals with deletions of the long arm of chromosome 18 underwent a complete otologic and audiologic examination. In addition, chromosome microarray analysis to determine ...
OBJECTIVE To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. DESIGN Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, r...
Isotretinoin is a retinoid that derivates from vitamin A. It is indicated for recalcitrant nodular acne treatment, but it has been classified as teratogenic. A wide spectrum of birth defects including craniofacial, heart and nervous system malformations have been described associated to prenatal exposure to this drug. We report the case of a newborn with a history of prenatal exposure to isotre...
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