Literature DB >> 3621661

Clinical anophthalmos in a family.

A Sensi, C Incorvaia, A Sebastiani, E Calzolari.   

Abstract

Monolateral or bilateral anophthalmos recurring in the absence of other associated defects in six members of a family is reported. The malformation appears to be inherited as a dominant (autosomal or X-linked) trait with incomplete penetrance. Implications for genetic counselling are briefly discussed.

Mesh:

Year:  1987        PMID: 3621661     DOI: 10.1111/j.1399-0004.1987.tb03346.x

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


  2 in total

1.  Bilateral congenital anophthalmos and agenesis of the optic pathways.

Authors:  Mustafa Aktekin; Ozay Oz; Muaffak Refik Saygili; Zeliha Kurtoğlu
Journal:  Yonsei Med J       Date:  2005-04-30       Impact factor: 2.759

2.  Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

Authors:  K Izumiya; T Nakada
Journal:  Int Urol Nephrol       Date:  1996       Impact factor: 2.370

  2 in total

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