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[两例孤立性上颌中切牙综合征]

[Two cases of solitary median maxillary central incisor syndrome].

作者信息

Catania P, Conti C, Poggi G M, Bardelli T, Lasagni D, De Martino M

机构信息

Dipartimento di Pediatria dell'Università di Firenze, Ospedale Anna Meyer, Firenze, Italia.

出版信息

Minerva Pediatr. 2010 Feb;62(1):113-8.

Abstract

Solitary median maxillary central incisor syndrome (SMMCI) syndrome is a unique developmental abnormality arising from an unknown event occurring between the 35th and 38th days in utero, and involving mieline structure of the head including the cranial bones, the maxilla and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. The SMMCI tooth may be possibly occur as an isolated trait or in association with many other midline developmental anomalies. It is estimated to occur in 1:50000 live births. There is a wide variability in the phenotypic spectrum. SMMCI is considered one of the most minimal expressions of the holoprosencephaly spectrum. Mutation in the Sonic Hedgehog homolog (SHH) gene may be associated with SSMMCI, but recent studies suggests the existence of several other candidate genes. We described two patients with SMMCI. They presented a solitary median maxillary incisor, short stature, hipotelorism and corpus callosus anomalies found on magnetic resonance imaging (MRI). They also present severe hiponatremia. At the best of our knowledge, this is the first report of cases of SMMCI with hiponatremia. We suggest that the sodium disorder may be secondary to syndrome of inappropriate secretion of antidiuretic hormone (SIADH).

摘要

孤立性上颌中切牙综合征(SMMCI)是一种独特的发育异常,由子宫内第35至38天之间发生的未知事件引起,涉及头部的髓质结构,包括颅骨、上颌骨及其容纳的牙列(特别是中切牙牙胚),以及身体的其他中线结构。SMMCI牙齿可能单独出现,也可能与许多其他中线发育异常相关。据估计,其在活产中的发生率为1:50000。表型谱存在广泛差异。SMMCI被认为是全前脑谱系中最轻微的表现之一。音猬因子(SHH)基因的突变可能与SMMCI有关,但最近的研究表明还存在其他几个候选基因。我们描述了两名SMMCI患者。他们表现为孤立性上颌中切牙、身材矮小、眼距过窄以及磁共振成像(MRI)发现的胼胝体异常。他们还出现严重低钠血症。据我们所知,这是首例SMMCI合并低钠血症的病例报告。我们认为钠紊乱可能继发于抗利尿激素不适当分泌综合征(SIADH)。

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