Literature DB >> 1345515

Hypoplastic thumbs and hydranencephaly: a new syndrome?

A M Norman1, D Donnai.   

Abstract

We report a fetus with hypoplastic thumbs and hydranencephaly. The features did not fit well into any syndrome described in the London dysmorphology database, and we suspect this may represent a previously undescribed syndrome, although a diagnosis of XK-aprosencephaly syndrome remains possible.

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Year:  1992        PMID: 1345515     DOI: 10.1097/00019605-199204000-00009

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


  1 in total

Review 1.  Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.

Authors:  Piero Pavone; Andrea D Praticò; Giovanna Vitaliti; Martino Ruggieri; Renata Rizzo; Enrico Parano; Lorenzo Pavone; Giuseppe Pero; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2014-10-18       Impact factor: 2.638

  1 in total

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