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Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?
Author(s) -
Hernández A.,
Nazará Z.,
Reynoso M. C.,
Sarralde A.,
Bobadilla L.,
Fragoso R.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04324.x
Subject(s) - hypopigmentation , oculocutaneous albinism , etiology , medicine , dermatology , pediatrics , pathology , genetics , albinism , biology
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.