Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects. A new syndrome?
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.
Hernández
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A
División de Genética, Centro de Investigación Blomédica de Occldente, Hospital de Especlaiidades, Jalisco, Mexico.
Nazará
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Z
Reynoso
M C
MC
Sarralde
A
A
Bobadilla
L
L
Fragoso
R
R
D000328:Adult; D016115:Albinism, Oculocutaneous; D002648:Child; D006226:Hand Deformities / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis; D011597:Psychomotor Performance; D011859:Radiography; D013577:Syndrome; D014786:Vision Disorders