Prenatal Diagnosis and Fetal Medicine Unit, Obstetrics and Gynecology Service, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.
Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.
Prenat Diagn. 2019 May;39(6):415-419. doi: 10.1002/pd.5451. Epub 2019 Apr 26.
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (HPE), diabetes insipidus, and neurodevelopmental delay. The diagnosis was performed postnatally based on clinical features, radiological imaging, and a comprehensive genetic study. SMMCI can be diagnosed during the prenatal or neonatal periods or during infancy. Evaluation of the superior maxillary bone is important for prenatal diagnosis. Direct evaluation through bidimensional ultrasound or the use of multiplanar ultrasound or tridimensional reconstruction should be performed in cases of brain or face malformations. Early diagnosis can contribute to improved prenatal assessment and postnatal management.
孤立性正中上颌中切牙（SMMCI）综合征是一种复杂的疾病，由多个涉及头部中线结构的发育缺陷组成，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 可能表现为孤立的特征，也可能与其他中线发育异常有关。我们描述了一例 SMMCI 患者。他表现为孤立性正中上颌中切牙、身材矮小、胼胝体异常和微小全前脑（HPE）、尿崩症和神经发育迟缓。该诊断是基于临床特征、影像学和全面的基因研究在产后做出的。SMMCI 可在产前、新生儿期或婴儿期诊断。对上颌骨的评估对产前诊断很重要。在存在脑或面部畸形的情况下，应通过二维超声或使用多平面超声或三维重建进行直接评估。早期诊断有助于改善产前评估和产后管理。
