A case of terminal long arm deletion of chromosome 6

A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.

Quanto de desvio da linha média dentária superior ortodontistas e leigos conseguem perceber?

OBJETIVOS: avaliar o grau de percepção do desvio de linha média superior e da angulação incisal do arco superior entre ortodontistas e leigos, assim como a influência da visualização clínica do filtro labial como referência morfológica para esse diagnóstico. MÉTODOS: foi utilizada a fotografia do sorriso de um indivíduo do gênero feminino, na qual foram produzidas alterações na linha média dentária, de 1 em 1 milímetro, até 4mm, e na angulação incisal, de 5 em 5 graus, até 15 graus, ambas para o lado esquerdo, com o auxílio de um programa de manipulação de imagens (Adobe Photoshop 7.0®).As imagens obtidas foram recortadas,formando um grupo com e outro sem a visualização do filtro labial e,em seguida,foram organizadas aleatoriamente e avaliadas por 24 ortodontistas e 24 indivíduos leigos com nível superior. RESULTADOS: os resultados obtidos revelaram que os ortodontistas foram capazes de detectar desvios da linha média a partir de 2mm (p < 0,05) e da angulação incisal a partir de 5 graus (p < 0,05), enquanto leigos só detectaram como inaceitáveis desvios a partir de 3 ou 4mm (dependendo da presença do filtro labial na imagem analisada) e 10 graus de alteração angular dos incisivos. A visualização do filtro labial na fotografia influenciou, embora suavemente, somente a avaliação dos examinadores leigos. CONCLUSÕES: conclui-se, portanto, que ortodontistas são mais críticos a pequenas variações da linha média superior e da angulação incisal do que indivíduos leigos,e que a visualização do filtro labial superior tem importância secundária como elemento de diagnóstico do desvio da linha média superior para leigos.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Background Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype. phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. Methods Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. Results The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype. phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.

The transposition advancement flap for repair of postsurgical defects on the upper lip

Skin cancer of the lip is frequent, and reconstruction after Mohs surgery might be challenging mostly when the postsurgical defect has a size of more than 1 cm(2) and is situated adjacent to the philtrum.

Evaluation of secondary functional cheilorhinoplasty during growth of cleft patients with residual lip and nasal deformities

PURPOSE: The aim of the study was to evaluate the clinical outcomes of secondary functional cheilorhinoplasty of residual lip and nasal deformities caused by muscular deficiency in cleft patients. PATIENTS AND METHODS: During a 4-year period, 31 patients underwent cheilorhinoplasty, including complete reopening of the cleft borders and differentiated mimic muscle reorientation. In 21 patients, remarkable residual clefts of the anterior palate were also closed. Simultaneous alveolar bone grafting was performed in 15 patients. The minimum follow-up was 1 year. Cosmetic features evaluated were spontaneous facial appearance and changes in position of the nasal floor and the philtrum. The width of the alar base was measured. For functional outcomes, deficiency during mimic movements was evaluated, using standardized photographs taken preoperatively and postoperatively. The final results, judged according to defined criteria with several clinical factors, were compared. RESULTS: Cosmetic and functional improvement was achieved in all patients. In young patients (aged 4 to 9 years), the improvements were noteworthy. There were no differences in outcomes between the groups with and without simultaneous grafting, except for unilateral cases with minor muscular deficiency, in whom bone grafting before cheilorhinoplasty led to better results. CONCLUSION: In cases of major muscular deficiency, early cheilorhinoplasty should be performed at age 7 years, without waiting for the usual timing of bone grafting. In minor and moderate cases, the operation can ideally be done in combination with bone grafting.