孤立性上颌中切牙综合征：伴有音猬因子新突变的临床病例

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

作者信息

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

机构信息

Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.

Molecular Genetic Laboratory, Rennes, Cedex, France.

出版信息

Am J Med Genet A. 2004 May 15;127A(1):93-95. doi: 10.1002/ajmg.a.20685.

DOI:10.1002/ajmg.a.20685

PMID:15103725

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.

摘要

孤立性上颌中切牙正中萌出（SMMCI）是一种罕见的牙齿发育异常。它通常被认为是全前脑畸形（HPE）的一种轻微表现。一些报道的家族中，部分成员患有严重的HPE，而其他成员则患有SMMCI。这些家族中已记录到音猬因子（SHH）的突变。SMMCI也被发现为孤立性病变，或与其他异常如小头畸形、身材矮小、内分泌疾病和后鼻孔闭锁同时存在。我们描述了一名患有SMMCI且携带一种新型SHH突变（Val332Ala）的患者。