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.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - May 15 2004|
- Bowel atresia
- Midline defects
- Val332Ala mutation
ASJC Scopus subject areas