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[Two cases of solitary median maxillary central incisor syndrome].
Minerva Pediatr 2010; 62(1):113-8MP

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).

Authors+Show Affiliations

Dipartimento di Pediatria dell'Università di Firenze, Ospedale Anna Meyer, Firenze, Italia. p.catania@meyer.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

20212404

Citation

Catania, P, et al. "[Two Cases of Solitary Median Maxillary Central Incisor Syndrome]." Minerva Pediatrica, vol. 62, no. 1, 2010, pp. 113-8.
Catania P, Conti C, Poggi GM, et al. [Two cases of solitary median maxillary central incisor syndrome]. Minerva Pediatr. 2010;62(1):113-8.
Catania, P., Conti, C., Poggi, G. M., Bardelli, T., Lasagni, D., & De Martino, M. (2010). [Two cases of solitary median maxillary central incisor syndrome]. Minerva Pediatrica, 62(1), pp. 113-8.
Catania P, et al. [Two Cases of Solitary Median Maxillary Central Incisor Syndrome]. Minerva Pediatr. 2010;62(1):113-8. PubMed PMID: 20212404.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Two cases of solitary median maxillary central incisor syndrome]. AU - Catania,P, AU - Conti,C, AU - Poggi,G M, AU - Bardelli,T, AU - Lasagni,D, AU - De Martino,M, PY - 2010/3/10/entrez PY - 2010/3/10/pubmed PY - 2010/8/4/medline SP - 113 EP - 8 JF - Minerva pediatrica JO - Minerva Pediatr. VL - 62 IS - 1 N2 - 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). SN - 0026-4946 UR - https://www.unboundmedicine.com/medline/citation/20212404/[Two_cases_of_solitary_median_maxillary_central_incisor_syndrome]_ L2 - http://www.minervamedica.it/index2.t?show=R15Y2010N01A0113 DB - PRIME DP - Unbound Medicine ER -