Lower Lip Pits: Van der Woude or Kabuki Syndrome?
| Autor: | Lun-Jou Lo, Yah Huei Wu-Chou, Ju Li Lin, Fen Hwa Wong, Xuecai Yang, Ferri P. David-Paloyo |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Cleft Lip Lower lip Multiple congenital anomaly Diagnosis Differential medicine Humans Abnormalities Multiple Van der Woude syndrome Cysts business.industry Infant medicine.disease Hematologic Diseases Dermatology Lip Surgery Cleft Palate Vestibular Diseases Otorhinolaryngology Face Female Oral Surgery business Kabuki syndrome |
| Zdroj: | The Cleft Palate-Craniofacial Journal. 51:729-734 |
| ISSN: | 1545-1569 1055-6656 |
| Popis: | Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis. |
| Databáze: | OpenAIRE |
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