Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, 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.

Anthropometric Measurements of Infraorbital Foramen and its Anatomic Variations in Dried Human Skulls.

Aim: This study was to determine the distance between IOF and IOM, IOF and pyriform aperture,the presence of accessory foraminae, orientation and location in relation with teeth on both the sides. Materials and Methods: Fifty dried human skulls (100 sides) irrespective of age and sex were used for this study. The distance between the IOF and IOM and the distance between the IOF and pyriform aperture were measured by using manual vernier calliper. The orientation, location in relation with teeth and presence of accessory foramina were observed macroscopically. Observations and Discussion: Accessory foramina may give complications during anaesthetization of this region. The mean distance between the IOF and infraorbital margin was 22.6mm and 15.2mm on the left and right side respectively. Mean distance between I.O.F and pyriform aperture was 26.2mm and 25.8mm on the left and right side respectively. In 30% skulls the IOF were directed vertically downward on the right side and in 38% on the left side. In 66% downward medially on the right side and 56% on the left side and in4% skulls medially on the right side and 6% on the left side. The majority of IOF were oriented to second premolar teeth on the right side and between second premolar and first molar on the left side.Accessory foraminae were found in 6% of skulls. The results of our study may be helpful during surgical procedures in the maxillary region in reduction of Lefort fracture, and giving regional nerve block.

Study on the development of frontal sinuses by morphometric analysis of the skull / Estudo referente ao desenvolvimento dos seios frontais pela análise morfométrica do crânio

The frontal sinuses are cranial areas of clinical, forensic and pathology importance whose development mechanisms are still poorly defined. Nasal airflow and brain development are two of the main theories. Current analysis debates whether they are the real determinants of frontal sinuses growth, which may be proved by the skull's morphometric analysis. Four groups of measures related to the external cranial architecture, the pyriform aperture, orbital cavities and frontal sinuses were defined. Thirty-three skulls of individuals, mean age 68 years, from the Laboratory of Anatomy of the Academic Centre of Victoria ­ UFPE ­ Brazil, were used. Statistical analysis showed total agenesis of the frontal sinus in 18.2% of the skulls. There was significant correlation between the development of the right frontal sinus and the pyriform aperture, and between the left frontal sinus and two cranial measurements (p ≤ 0.05). Significant differences between mean of pyriform aperture areas of the skulls with or without sinuses were also reported (p ≤ 0.01). Results supported the fact that there was a modulation activity by nasal aeration and brain formation in the development of frontal sinuses.

Os seios frontais são espaços cranianos de importância clínica, forense e patológica, cujos mecanismos responsáveis pelo desenvolvimento são ainda pouco definidos, sendo duas das teorias propostas, o fluxo aéreo nasal e o desenvolvimento encefálico. Objetivou-se evidenciar por meio de análise morfométrica do crânio se estes são os reais fatores determinantes do crescimento dos seios frontais. Neste estudo, foram definidos quatro grupos de medidas referentes à arquitetura craniana externa, à abertura piriforme, às cavidades orbitárias e aos seios frontais. Para este propósito, nós utilizamos 33 crânios de indivíduos com média de idade de 68 anos, provenientes do Laboratório de Anatomia Humana ­ Centro Acadêmico de Vitória- UFPE/Brasil. Após os exames estatísticos, foi verificado agenesia total dos seios frontais em 18,2 % dos crânios estudados. Houve correlação significativa entre o desenvolvimento do seio frontal direito e a abertura piriforme, e entre o do seio frontal esquerdo e duas aferições encefálicas, com p ≤ 0,05. Observamos uma diferença significativa entre as médias de áreas de abertura piriforme dos crânios que possuíam ou não os seios, com p ≤ 0,01. Os achados deste estudo comprovam o fato de que existe uma atividade moduladora exercida pela aeração nasal e formação encefálica no desenvolvimento dos seios frontais.

Cornaje del recién nacido por estenosis congénita de la apertura piriforme: serie de casos / Stertor in the newborn due to congenital nasal pyriform aperture estenosis: case series

El cornaje es un ruido generado por la alteración del flujo de aire al pasar por las fosas nasales. La principal causa en recién nacidos y lactantes es la rinitis inflamatoria o infecciosa. Con menor frecuencia, puede ser de origen congénito, neoplásico, traumático o iatrogénico.La estenosis congénita de la apertura piriforme es una etiología infrecuente de obstrucción nasal en el neonato. El diagnóstico precoz y el tratamiento apropiado son esenciales debido a surespiración nasal obligada. La dificultad o la imposibilidad de hacer progresar una sonda de 2,8 mm (sonda K30) a través de la región anterior de las fosas nasales, permiten sospecharla.El diagnóstico debe ser confirmado por una tomografía computada del macizo craneofacial. La conducta terapéutica dependerá de la gravedad de los síntomas.Describimos nuestra experiencia con 9 pacientes que presentaban esta patología cuya corrección quirúrgica fue exitosa.

Stertor is a noise generated by the disturbance of the air flow passing through the nose. Its main cause –in newborns and infants– is inflammatory or infectious rhinitis. Congenital,neoplastic, traumatic or iatrogenic causes are less frequent. Congenital stenosis of the pyriform aperture is a rare etiology of nasal obstruction in the neonates. Early diagnosis and appropriate treatment are essential because of their exclusive nasal breathing. Suspicion might arise when a difficulty or even an impossibility to pass a probe of 2.8 mm (K30 tube) through anterior nares, exists. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic behavior will depend on the severity of symptoms. We describe our experience with nine patients with this conditionwhose surgical correction was successful.

A Case of Respiratory Difficulty Due to Congenital Tracheal Calcification and Nasal Pyriform Aperture Stenosis

Nasal obstruction is a cause of respiratory distress in newborns. The congenital nasal airway obstructive abnormalities are classified into three forms according to the location: posterior choanal atresia, nasal cavity stenosis and congenital nasal pyriform aperture stenosis(CNPAS). CNPAS is located at the anterior part of the nasal fossa. CT is the study of choice to make the diagnosis of CNPAS and rule out other causes of nasal obstruction. Though conservative management of CNPAS is recommended, in cases of severe CNPAS surgical treatment should be considered. Calcification of cartilage in the larynx, trachea and bronchi is extremely rare in children. Such calcifications are generally discovered in young children with congenital stridor. The clinical course is favorable. No case with CNPAS and tracheal calcification is reported in newborn. We report a one-day-old girl with CNPAS and tracheal calcification who presented with respiratory difficulty immediately after birth.

A Case of Congenital Nasal Pyriform Aperture Stenosis

The cause of congenital nasal pyriform aperture stenosis is unclear. The development of the facial skeleton occurs between the fifth and the eighth week of gestation. It is at this stage that the stenosis occurs due to overgrowth of the ossification of the maxilla. Infants are obligate nasal breathers. Incomplete and milder forms of nasal airway obstruction may be present with mild respiratory distress, cyanosis, respiratory failure, asphyxia and eventual death. The diagnosis is done by CT, which demonstrates marked narrowing of the nasal inlet. Mild stenosis can be managed conservatively with humidification and topical decongestants but if conservative treatment fails, surgical intervention is candidate. We report a case of congenital nasal pyriform aperture stenosis. The patient, a 2-day old male neonate, had cyanosis during feeding and noisy breathing relieved by crying. His symptoms and signs were improved with surgical intervention without development disturbances.