Síndrome de Gardner: informe de un caso y revisión de la literatura / Gardner syndrome: case report and literature review

El síndrome de Gardner es una enfermedad genética de herencia autosómica dominante, presenta múltiples manifestaciones craneofaciales caracterizadas por hipercrecimientos óseos conocidos como osteomas, riesgo de desarrollo de pólipos gastrointestinales con alto potencial de malignidad y de tumores o quistes en piel, así como alteraciones dentales, entre las que destacan la presencia de dientes supernumerarios, retenciones dentarias, permanencia de dientes deciduos y odontomas, estas últimas de gran importancia para el odontólogo. Se trata de una enfermedad que afecta a mujeres y hombres de forma indistinta, no obstante, su prevalencia es mayor en el sexo femenino. El objetivo del presente artículo es explicar las manifestaciones clínicas y radiográficas dentales y craneofaciales del síndrome de Gardner mediante la presentación de un caso clínico y revisión de la literatura (AU)

Gardner syndrome is a genetic disease of autosomal dominant inheritance, it presents multiple craniofacial manifestations characterized by bone overgrowths known as osteomas, risk of development of gastrointestinal polyps with high potencial of malignancy, and skin tumors or cysts, as well as dental alterations, among the characteristics of the presence of supernumerary teeth, dental retention, permanence of deciduous teeth and odontomas, the latter of great importance for the dentist. It is a disease that affects women and men indistinctly, however, its prevalence is higher in the female sex. The aim of this article is to explain the dental and craniofacial clinical and radiographic manifestations of Gardner syndrome by presenting a clinical case and a review of the literature (AU)

3D CT Soft Tissue Craniofacial Analysis and Lip Morphology

ABSTRACT Objctive: To assess the soft tissue characteristics of Bangladeshi adults to formulate soft tissue 3D CT standards using Holdaway's (HA) and lip morphology (LM) analyses. Another aim of this study was to assess the gender dimorphism of Bangladeshi population. Material and Methods: One hundred and seventeen (Eighty-five men and Thirty-two women) Bangladeshi adults have obtained their computed tomography (CT) scan at the Radiology Department for normal diagnosis. Craniofacial deformities were undetected in all cases. The CT images were prepared by a 3D imaging programming software (Mimics 11.02 Materialise). Parameters from the identified landmark points were measured in 3D through this software. Results: Upper lip thickness (ULT) (vermillion UL-A point) measurement was significant in HA and in LM analyses, upper lip protrusion (ULP) (Ls to Sn-SPog) measurement has demonstrated significant difference among both genders, where p-value was less than 0.05. Mean measurements of Bangladeshi adults were relatively comparable except the face convexity (FC) when compared with the HA cephalometric soft tissue values. Conclusion: By using HA and LM analyses, 3D CT soft tissue standards were established for Bangladeshi adults. Measurements for all parameters have remained equivalent with the HA standard data apart from the FC measurement. This consequently may demonstrate that the Bangladeshi population retains a convex shape with a slight protrusive lip or retruded chin.

3-D airway analysis related to facial morphology / Análisis 3-D de la vía aerea relacionado con la morfología facial

The aim of this investigation was to define the volume and area of the airway in subjects with Class II and Class III skeletal deformity. A cross-sectional study was designed including subjects with facial deformity defined by Steiner's analysis in subjects with indication of orthognathic surgery who presented diagnosis by cone beam computerised tomography. We determined the measurements of maximum area, minimum area and volume of the airway. The data were compared using Spearman's test, with statistical significance defined as p<0.05. 115 subjects were included: 61.7 % Class II and 38.3 % Class III, mean age 27.8 years (± 11.6). A significant difference was observed in the area and volume measurements in the groups studied, with significantly smaller measurements found in Class II (p=0.034). The minimum area was 10.4 mm2 smaller in Class II patients than in Class III, while the general volume of the airway was 4.1 mm3 smaller in Class II than in Class III. We may conclude that Class II subjects present a smaller airway volume than Class III subjects.

El objetivo de esta investigación de definir el volumen y área de vía aérea en sujetos con deformidad esqueletal clase II y III. Se diseñó un estudio de corte transversal incluyendo sujetos con deformidad facial definida según análisis de Stainer en sujetos con indicación de cirugía ortognática que presentaran una tomografía computadorizada de haz cónico como elemento diagnóstico; en este examen se determinaron medidas de área mayor, menor de vía aérea y volumen presente; los datos fueron comparados utilizando pruebas estadísticas con el test de spearman considerando el valor de p<0,05 para definir significancia estadística. 115 sujetos fueron incluidos, siendo 61,7 % de tipo clase II y 38,3 % de sujetos clase III, con una edad promedio de 27,8 años (± 11,6). Se observó una diferencia significativa en mediciones de area y volumen en los grupos estudiados, siendo el grupo de clase II significativamente menor (p=0,034). El área de menor tamaño fue 10,4 mm2 en pacientes clase II que en pacientes clase III, mientras que el volumen general de la vía área fue 4,1 menor en los clase II que en los clase III. Es posible concluir que los sujetos de clase II presentan menor volumen de vía área que los sujetos clase III.

Deformidades craneoestenoticasfaciales su estudio en nuestro medio (1992- 2009) / Craniofacialsynostosis malformations a study in our department (1992- 2009)

Las deformidades craneoestenóticas-faciales o alteraciones morfo-volumétricas del cráneo y la cara, de etiopatogenia discutida y tratamiento siempre quirúrgico y precoz, motivan esta investigación longitudinal y retrospectiva de 108 sujetos operados de la craneoestenosis que forma parte de todas ellas, teniendo en cuenta las siguientes variables: edad, sexo, tipos de craneoestenosis, estudios imagenológicos y neurofisiológicos pre y postoperatorios, complicaciones acaecidas en el trans o postoperatorio, se llegó a los siguientes resultados: Edad predominante, 1 año (51.9 por ciento), sexo masculino (83.3 por ciento), tipo de craneoestenosis mayor número de veces presente, la escafocefalia (68 niños/63 por ciento). Estudios Preoperatorios. Imagenología: La radiografía simple de cráneo en tres vistas mostró mayor número de veces el diagnóstico de imagen, con aumento de presencia de impresiones digitiformes (18 pacientes/16.6 por ciento); mientras que TAC de Cráneo permitió diagnosticar tempranamente (7 niños/6.5 por ciento) signos de hidrocefalia y presencia de atrofia cerebral ( 27 sujetos/25 por ciento); imágenes diagnósticas fundamentales para confirmar diagnóstico precoz de craneoestenosis. Estudios Neurofisiológicos (EEG), patológicos (73 pacientes/67.5 por ciento), resultados no encontrados en estudios evolutivos posteriores a los 6 meses de la cirugía. Siendo muy escasas la presencia de complicaciones trans y postoperatorias, no obstante ocurrir una muerte súbita (0.9 por ciento), en el postoperatorio inmediato (72 horas).

Craniofacialsynostotic malformations and morpho-volume alterations of the skull and the face of discussed etiopathogenesis and early surgical treatment have motivated a longitudinal and retrospective research of a 108 subjects who underwent surgery of craniosynostosis taking into consideration the following variables: age, sex, type of craniosynostosis, imaging and neurophysiologic studies either pre or post operatory, as well as during and post operatory complications; resulting in the following : predominant age 1 year (51.9 percent), male (83.3 percent), type of craniosynostosis of greater number of presence, scafocephaly (68 children/63 percent). The pre operatory imaging studies.: were simple radiography of the skull of three views showing greater number of times an image diagnosis, with increased presence of digit forms impressions (18 patients/16.6 percent); whereas skull CT scan allowed to early diagnose (7 children/6.5 percent) signs of hydrocephaly and the presence of cerebral atrophy, (27 subjects/25 percent); essential diagnostic images to confirm early diagnosis of craniosynostosis. Neurophysiologic studies (EEG), pathologic (73 patients /67.5 percent), with no result in follow up studies after six months of surgery. Having little presence of complications during or post operatory; however, one sudden death occurred (0.9 percent), in the immediate post operatory (72 hours).

Yunis Varon syndrome.

In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.