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Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome? |
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| Authors: | A Hernández Z Nazará M C Reynoso A Sarralde L Bobadilla R Fragoso |
| Institution: | Division de Genética, Centra de investigation Biomedica de Occidente, Subjefatura de investigación Cientifica, Hospital de Especialidades, Centro Medico National de Occidente, Instituto Mexicano del Seguro Social, Secretaria de Salud, Jalisco, Maestria en Genetica Humana y Doctorado en Biologia Molecular en Medicina, Universidad de Guadalajara, Guadalajara Jalisco, Mexico |
| Abstract: | An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology. |
| Keywords: | hypopigmentation oculocutaneous osteoporosis syndrome |