Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of Sonic Hedgehog

Livia Garavelli, C. Zanacca, G. Caselli, G. Banchini, C. Dubourg, V. David, S. Odent, F. Gurrieri, G. Neri

Research output: Contribution to journalArticle

Abstract

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala.

Original languageEnglish
Pages (from-to)93-95
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume127 A
Issue number1
Publication statusPublished - May 15 2004

Keywords

  • Bowel atresia
  • Midline defects
  • Val332Ala mutation

ASJC Scopus subject areas

  • Genetics(clinical)

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