Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

Abstract

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palatelip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

“…One of the most frequent anomalies associated with HPE is the median maxillary single central incisor (SMMCI) and congenital nasal pyriform aperture stenosis (CNPAS) [22,23]. The diagnosis and management of clinical cases with this association are described in the literature [6,7,[24][25][26][27][28][29][30][31][32][33] (Table 1). From the earliest to most recent studies, such as our case, the diagnosis of minor forms of HPE has been reported to occur after birth, mainly due to respiratory difficulty and the need for assistance (intubation in intensive care).…”

“…From the earliest to most recent studies, such as our case, the diagnosis of minor forms of HPE has been reported to occur after birth, mainly due to respiratory difficulty and the need for assistance (intubation in intensive care). Imaging tests such as CT and MRI help to evaluate the presence of nasal obstruction [6,7,[22][23][24][25][26][27][28][29][30][31][32][33]. The presence of SMMCI is often incidentally detected [6,7,[24][25][26][27][28][29][30][31][32][33].…”

“…Imaging tests such as CT and MRI help to evaluate the presence of nasal obstruction [6,7,[22][23][24][25][26][27][28][29][30][31][32][33]. The presence of SMMCI is often incidentally detected [6,7,[24][25][26][27][28][29][30][31][32][33]. Over the years, the diagnosis has been increasingly supported by postnatal genetic analyses, and the current trend strongly encourages the evaluation of risk factors during pregnancy and early diagnosis as early as the fetal period so that the necessary postnatal approach can be planned [18].…”

“…The treatment of stenosis of the pyriform opening associated with holoprosencephaly can be limited to medical therapy for mild cases [6,25,26,29,33]. However, the most severe cases require correction of the anatomical defect with surgery [7,24,[27][28][29][30][31][32].…”