Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog
L Garavelli, C Zanacca, G Caselli… - American journal of …, 2004 - Wiley Online Library
L Garavelli, C Zanacca, G Caselli, G Banchini, C Dubourg, V David, S Odent, F Gurrieri…
American journal of medical genetics Part A, 2004•Wiley Online LibrarySolitary 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 …
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 …
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. © 2003 Wiley‐Liss, Inc.
Wiley Online Library