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9673294 
Journal Article 
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome 
Szakszon, K; Felszeghy, E; Csízy, I; Józsa, T; Káposzta, R; Balogh, E; Oláh, E; Balogh, I; Berényi, E; Knegt, AC; Ilyés, I 
2012 
Yes 
European Journal of Medical Genetics
ISSN: 1769-7212 
55 
2 
109-111 
English 
22138217 
Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status.