Fronto-Ocular syndrome: Newly recognized trigonocephaly syndrome

Erika N. Schneider, Anna Bogdanow, James Tait Goodrich, Robert W. Marion, M. Michael Cohen

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We describe an apparently unique disorder, Fronto-Ocular syndrome, present in a mother and her two daughters, and comprising trigonocephaly due to coronal and metopic craniosynostosis, ocular hypotelorism, ocular proptosis and ptosis, epicanthal folds, hypoplastic supraorbital ridges, elevated nasal bridge, thin philtrum, high-arched palate and a narrow bifrontal region. Both daughters have glabellar capillary hemangiomas, a congenital heart defect and mild developmental disabilities. Review of the literature failed to disclose any syndrome with similar findings. It is likely that this disorder represents an autosomal dominant condition, that arose as a new mutation in the mother, Mutational analysis of fibroblast growth factor receptor (FGFR) 1 and FGFR2 failed to identify the molecular basis of the disorder. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)89-93
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume93
Issue number2
DOIs
StatePublished - Jul 17 2000

Fingerprint

Receptor, Fibroblast Growth Factor, Type 1
Capillary Hemangioma
Craniosynostoses
Developmental Disabilities
Exophthalmos
Congenital Heart Defects
Palate
Lip
Nose
Mutation
Opitz trigonocephaly syndrome
Nonsyndromic Trigonocephaly

Keywords

  • Autosomal dominant inheritance
  • Craniosynostosis
  • Fibroblast growth factor receptors
  • Multiple congenital anomalies
  • Trigonocephaly

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Fronto-Ocular syndrome : Newly recognized trigonocephaly syndrome. / Schneider, Erika N.; Bogdanow, Anna; Goodrich, James Tait; Marion, Robert W.; Cohen, M. Michael.

In: American Journal of Medical Genetics, Vol. 93, No. 2, 17.07.2000, p. 89-93.

Research output: Contribution to journalArticle

Schneider, Erika N. ; Bogdanow, Anna ; Goodrich, James Tait ; Marion, Robert W. ; Cohen, M. Michael. / Fronto-Ocular syndrome : Newly recognized trigonocephaly syndrome. In: American Journal of Medical Genetics. 2000 ; Vol. 93, No. 2. pp. 89-93.
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