Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?

We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.
AuthorsM L Guion-Almeida, A Richieri-Costa
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 8 Issue 1 Pg. 1-4 (Jan 1999) ISSN: 0962-8827 [Print] ENGLAND
PMID10327243 (Publication Type: Case Reports, Journal Article)
  • Abnormalities, Multiple (pathology)
  • Central Nervous System (pathology)
  • Ear (abnormalities)
  • Face (abnormalities)
  • Female
  • Humans
  • Infant
  • Intellectual Disability (pathology)
  • Syndrome

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