Literature DB >> 6663291

An oculocerebral hypopigmentation syndrome.

M Preus, F C Fraser, F W Wiglesworth.   

Abstract

An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).

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Mesh:

Year:  1983        PMID: 6663291

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  2 in total

1.  An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.

Authors:  M A Patton; M Baraitser; A H Heagerty; R A Eady
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

2.  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
  2 in total

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