Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog

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 thes...

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Bibliographic Details
Published in:American journal of medical genetics 2004-05, Vol.127A (1), p.93-95
Main Authors: Garavelli, Livia, Zanacca, C., Caselli, G., Banchini, G., Dubourg, C., David, V., Odent, S., Gurrieri, F., Neri, G.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Biological and medical sciences
bowel atresia
Child, Preschool
DNA Mutational Analysis
Female
General aspects. Genetic counseling
Hedgehog Proteins
Holoprosencephaly - diagnosis
Holoprosencephaly - genetics
Humans
Incisor - abnormalities
Medical genetics
Medical sciences
midline defects
Point Mutation - genetics
Syndrome
Trans-Activators - genetics
Val332Ala mutation
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Summary: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.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20685