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Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs.

Authors
  • Lopes, Vera Lúcia Gil da Silva
  • Guion-Almeida, Maria Leine
  • Giffoni, Silvyo David Araújo
Type
Published Article
Journal
Clinical Dysmorphology
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Jan 01, 2004
Volume
13
Issue
1
Pages
35–37
Identifiers
PMID: 15127764
Source
Medline
License
Unknown

Abstract

We describe a 15-month-old girl born to a normal family and with non-consanguineous parents presenting with an unusual pattern of multiple congenital anomalies, including frontonasal dysplasia, neuronal migration error, lymphoedema of upper and lower limbs, and mild neuropsychomotor delay. Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology.

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