Literature DB >> 8721572

Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects. A new syndrome?

A Hernández1, Z Nazará, M C Reynoso, A Sarralde, L Bobadilla, R Fragoso.   

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.

Entities:  

Mesh:

Year:  1996        PMID: 8721572     DOI: 10.1111/j.1399-0004.1996.tb04324.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Authors:  Samson O Oyibo
Journal:  Cureus       Date:  2020-04-24
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.