Literature DB >> 8574422

Nevo syndrome.

B G Hilderink1, H G Brunner.   

Abstract

We describe a male patient born to consanguineous parents with a syndrome of tall stature at birth, hypotonia, wrist drop and long spindle shaped fingers. The clinical features are identical to those previously described in three cases from a single family by Nevo et al. (1974: J Med Genet 11: 158-165). Autosomal recessive inheritance is supported by consanguinity in our case. Follow-up at age 3 years demonstrated significant improvement of hypotonia and motor function, and normal cognitive ability.

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Year:  1995        PMID: 8574422     DOI: 10.1097/00019605-199510000-00007

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  Further delineation of Nevo syndrome.

Authors:  L I al-Gazali; D Bakalinova; E Varady; J Scorer; M Nork
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

  1 in total

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