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The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.
Prenat Diagn 2019; 39(6):415-419PD

Abstract

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.

Authors+Show Affiliations

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.Pediatric Endocrinology Unit, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.Prenatal Diagnosis and Fetal Medicine Unit, Obstetrics and Gynecology Service, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.Radiodiagnosis Service, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.Molecular Genetics Center GENETAQ. Institute of Genomic Medicine, MGC Genetaq, Málaga, Spain.Molecular Genetics Center GENETAQ. Institute of Genomic Medicine, MGC Genetaq, Málaga, Spain.Prenatal Diagnosis and Fetal Medicine Unit, Obstetrics and Gynecology Service, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.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.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

30900264

Citation

Garcia Rodriguez, Raquel, et al. "The Solitary Median Maxillary Central Incisor (SMMCI) Syndrome: Associations, Prenatal Diagnosis, and Outcomes." Prenatal Diagnosis, vol. 39, no. 6, 2019, pp. 415-419.
Garcia Rodriguez R, Garcia Cruz L, Novoa Medina Y, et al. The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. Prenat Diagn. 2019;39(6):415-419.
Garcia Rodriguez, R., Garcia Cruz, L., Novoa Medina, Y., Garcia Delgado, R., Perez Gonzalez, J., Palma Milla, C., ... Santana Rodriguez, A. (2019). The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. Prenatal Diagnosis, 39(6), pp. 415-419. doi:10.1002/pd.5451.
Garcia Rodriguez R, et al. The Solitary Median Maxillary Central Incisor (SMMCI) Syndrome: Associations, Prenatal Diagnosis, and Outcomes. Prenat Diagn. 2019;39(6):415-419. PubMed PMID: 30900264.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. AU - Garcia Rodriguez,Raquel, AU - Garcia Cruz,Loida, AU - Novoa Medina,Yeray, AU - Garcia Delgado,Raquel, AU - Perez Gonzalez,Julio, AU - Palma Milla,Carmen, AU - Lopez Siles,Juan, AU - Medina Castellano,Margarita, AU - Garcia Hernandez,Jose Angel, AU - Santana Rodriguez,Alfredo, Y1 - 2019/04/26/ PY - 2018/08/23/received PY - 2019/02/10/revised PY - 2019/03/17/accepted PY - 2019/3/23/pubmed PY - 2019/3/23/medline PY - 2019/3/23/entrez SP - 415 EP - 419 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 39 IS - 6 N2 - 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. SN - 1097-0223 UR - https://www.unboundmedicine.com/medline/citation/30900264/The_solitary_median_maxillary_central_incisor_(SMMCI)_syndrome:_Associations,_prenatal_diagnosis,_and_outcomes L2 - https://doi.org/10.1002/pd.5451 DB - PRIME DP - Unbound Medicine ER -