A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes

Jodi D. Hoffman*, Mira Irons, Charles E. Schwartz, Livija Medne, Elaine H. Zackai

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog-Scott and in Teebi hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded.

Original languageEnglish (US)
Pages (from-to)1282-1286
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number12
DOIs
StatePublished - Jun 15 2007
Externally publishedYes

Keywords

  • Craniosynostosis
  • Faciogenital dysplasia
  • Short stature
  • Teebi hypertelorism syndrome (brachycephalofrontal dysplasia)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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