Background and Objectives: Vascular variations appear as morphologically distinct patterns of blood diverging from the most commonly observed vessel patterns. The facial artery is considered to be the main vessel for supplying blood to the anterior part of the face. An anatomical understanding of the facial artery, its course, its topography, and its branches is important in medical and dental practice (especially in neck and face surgery), and is also essential for radiologists to be able to interpret vascular imaging in the face following angiography of the region. A profound knowledge of the arteries in the region will aid in minimizing the risks to the patient. Materials and Methods: In our publication a narrative literature review and a case report are presented. Results: A rare case of a facial artery pattern has been described anatomically for the first time with respect to its course and branching. This variation was found on the left side of a 60-year-old male corpse during anatomical dissection. The anterior branch of the facial artery arched in the direction of the labial angle, and there divided into the inferior and superior labial arteries. At the same time, the posterior branch coursed vertically and superficially to the masseter muscle. It here gave off the premasseteric branch, and continued towards the nose, where it ran below the levator labii superioris and the levator labii superioris alaeque nasi muscles and terminated at the dorsum nasi. Conclusions: Our review of the literature and the case report add to knowledge on the facial artery with respect to its topographical anatomy and its branching and termination patterns, as well as the areas of supply. An exact knowledge of individual facial artery anatomy may play an important role in the planning of flaps or tumor excisions due to the differing vascularization and can also help to prevent artery injuries during aesthetic procedures such as filler and botulinum toxin injections.

This thesis further delineates the molecular genetic basis of a relatively common craniofacial condition, coronal craniosynostosis. It used whole-exome sequencing to identify novel disease genes in patients with non-syndromic coronal synostosis and negative genetic testing. Initially, 2 patients were identified with damaging, frameshift mutations in a gene not previously linked with craniosynostosis – Transcription Factor 12 (TCF12). A further intronic mutation was identified in a third patient. This gene encodes a transcription factor that dimerises with TWIST1, mutations of which cause Saethre-Chotzen syndrome, also associated with coronal synostosis. Screening 344 undiagnosed patients identified 35 further mutations, all with coronal synostosis with 14 cases arising de novo. This work was published and testing for TCF12-related craniosynostosis was translated clinically. Significant non-penetrance (60%) was identified in mutation-positive relatives and the genetic background was investigated. Firstly, analysis of parental origins of de novo mutations identified 6 of paternal origin and helped refine haplotype assignment. Secondly, haplotype analysis of TCF12-mutation carriers revealed modest correlation with phenotypic status, but this was insufficient to be useful in clinical testing. Thirdly, TCF12 haplotypes were analysed for association with non-syndromic coronal synostosis, but no significant association was found. Further exome sequencing revealed a de novo frameshift mutation in Transcription Factor 20 (TCF20) in a patient with coronal synostosis and autism, although the mutation only correlated with the latter phenotype. Analysis of 5 trios revealed a novel variant in myosin heavy chain 4 (MYH4) in 1 family, although its role in suture development is uncertain. Reviewing pooled exome data from 19 mutation-negative patients revealed no further disease genes. In summary, this thesis describes novel gene discovery, defines a new clinical entity and investigates genetic background of penetrant and non-penetrant individuals. Further exome sequencing identified another disease gene, a de novo mutation and compiled lists of damaging variants to allow future work.

INTRODUÇÃO: O retalho ântero-lateral da coxa é baseado em vasos perfurantes do ramo descendente da artéria circunflexa lateral femoral. Este retalho tem características muito interessantes para a cirurgia reparadora, como a pequena espessura, pedículo longo e excelente área doadora. No entanto, existem muitas controvérsias na literatura quanto aos vasos perfurantes e ao trajeto do pedículo deste retalho. Neste trabalho procurou-se estabelecer alguns parâmetros anatômicos e esclarecer estas controvérsias. MÉTODO: Estudaram-se 100 coxas de 50 cadáveres quanto aos seguintes aspectos: 1- Número e localização de perfurantes encontrados, 2- Trajeto do pedículo perfurante, 3- Trajetória intramuscular, 4- Comprimento do trajeto intramuscular, 5- Comprimento total do pedículo, 6- Diâmetro dos vasos e 7- Espessura do retalho. RESULTADOS: 1- Encontraram-se de 0 a 4 perfurantes por coxa estudada, todas em um raio de até 6cm do ponto médio entre a espinha ilíaca ântero-superior e a borda lateral da patela. 2- Os vasos perfurantes tinham trajeto músculo-cutâneo em 75,76% das coxas e septo-cutâneo em 24,24%. 3- Dos pedículos perfurantes com trajeto músculo-cutâneo, 86,67% possuíam trajetória indireta contra 13,33% com trajetória direta. 4- O comprimento médio do trajeto intramuscular dos pedículos foi de 3,67 ± 2,01 cm. 5- O comprimento médio do pedículo total foi de 11,31 ± 3,12 cm. 6- O diâmetro médio da artéria na origem do ramo descendente da artéria circunflexa femoral foi de 2,21 ± 0,85 mm e para as veias no mesmo local de 2,66 ± 1,33 mm e 2,10 ± 1,11 mm. 7- A espessura da tela subcutânea foi de 8,98 ±6,23 mm e da pele de 1,60 ± 0,76 mm. CONCLUSÕES: 1- Existiu uma pequena possibilidade de não haver pedículos perfurantes. 2- Quando presentes, os pedículos perfurantes do ramo descendente da artéria circunflexa lateral femoral eram encontrados em numero de 1 a 4, sempre em um raio de 6 cm a partir do ponto médio entre a espinha ilíaca ântero-superior e a borda lateral da patela. 3- Os trajetos dos pedículos perfurantes eram predominantemente músculo-cutâneos. 4- A trajetória intramuscular encontrada foi predominantemente indireta. 5- O comprimento do trajeto intramuscular correspondeu a 31,69% do comprimento total do pedículo. 6- O comprimento total do pedículo se mostrou adequado tanto para transferências locais como à distancia por técnicas microcirúrgicas. 7- Os diâmetros dos vasos, tanto da artéria quanto das veias, se mostraram adequados para a realização de anastomoses microcirúrgicas. 8- A espessura do retalho encontrada foi significantemente maior nas coxas de indivíduos femininos, mas tanto nos homens quanto nas mulheres a espessura foi relativamente fina. / INTRODUCTION: The anterolateral thigh flap is based on the perforator vessels of the descending branch of the lateral circumflex femoral artery. This flap has very interesting characteristics for the reconstructive surgery, like the small thickness, long pedicle and excellent donor site. On the other hand, there are many controversial data on the literature about the perforator vessels and the pedicle course of this flap. The aims of this study are to establish some anatomical parameters and clear some controversies. METHOD: A hundred thighs of 50 cadavers were studied for: 1- The number and location of the perforator vessels. 2- The course of the perforator pedicles. 3- The intramuscular course. 4- The length of the intramuscular course. 5- The total length of the vascular pedicle. 6- The diameter of the vessels. and 7- The thickness of the flap. RESULTS: 1- There were found from 0 to 4 perforators per thigh, all in a 6cm radius from the mid point between the anterosuperior iliac spine and the lateral border of the patella. 2- The pedicles was musculocutaneous in 75,76% of the thighs and septocutaneous in 24,24%. 3- Among the musculocutaneous pedicles, 86,67% had a direct intramuscular course, and 13,33% had indirect course. 4- The mean length of the intramuscular course was 3,67 ± 2,01 cm. 5- The mean total pedicle length was 11,31 ± 3,12 cm. 6-The mean artery diameter on the origin of the descending branch of the lateral circumflex femoral artery was 2,21 ± 0,85 mm and the mean vein diameter on the same spot was 2,66 ±1,33 mm and 2,10 ± 1,11 mm. 7- The mean subcutaneous fat tissue thickness was 8,98 ± 6,23 mm and the mean skin thickness was e 1,60 ± 0,76 mm. CONCLUSIONS: 1- There was a possibility of finding no perforators of the descending branch of the lateral circumflex femoral artery. 2- When present, the perforators pedicles were found in numbers between 1 to 4, always in a 6cm radius from the mid point between the anterosuperior iliac spine and the lateral border of the patella. 3- The perforators pedicles courses were predominantly musculocutaneous. 4- The intramuscular courses were mainly indirect. 5- The intramuscular length was responsible for 31,69% of the total length of the vascular pedicle. 6- The total length of the pedicle was adequate for either local or microsurgical transfers. 7- The arterial and venous diameters were adequate for microsurgical anastomosis. 8- The female cadavers had significantly thicker flaps, but both in the male and the female cadavers the flap was considerably thin.

INTRODUÇÃO: O retalho ântero-lateral da coxa é baseado em vasos perfurantes do ramo descendente da artéria circunflexa lateral femoral. Este retalho tem características muito interessantes para a cirurgia reparadora, como a pequena espessura, pedículo longo e excelente área doadora. No entanto, existem muitas controvérsias na literatura quanto aos vasos perfurantes e ao trajeto do pedículo deste retalho. Neste trabalho procurou-se estabelecer alguns parâmetros anatômicos e esclarecer estas controvérsias. MÉTODO: Estudaram-se 100 coxas de 50 cadáveres quanto aos seguintes aspectos: 1- Número e localização de perfurantes encontrados, 2- Trajeto do pedículo perfurante, 3- Trajetória intramuscular, 4- Comprimento do trajeto intramuscular, 5- Comprimento total do pedículo, 6- Diâmetro dos vasos e 7- Espessura do retalho. RESULTADOS: 1- Encontraram-se de 0 a 4 perfurantes por coxa estudada, todas em um raio de até 6cm do ponto médio entre a espinha ilíaca ântero-superior e a borda lateral da patela. 2- Os vasos perfurantes tinham trajeto músculo-cutâneo em 75,76% das coxas e septo-cutâneo em 24,24%. 3- Dos pedículos perfurantes com trajeto músculo-cutâneo, 86,67% possuíam trajetória indireta contra 13,33% com trajetória direta. 4- O comprimento médio do trajeto intramuscular dos pedículos foi de 3,67 ± 2,01 cm. 5- O comprimento médio do pedículo total foi de 11,31 ± 3,12 cm. 6- O diâmetro médio da artéria na origem do ramo descendente da artéria circunflexa femoral foi de 2,21 ± 0,85 mm e para as veias no mesmo local de 2,66 ± 1,33 mm e 2,10 ± 1,11 mm. 7- A espessura da tela subcutânea foi de 8,98 ±6,23 mm e da pele de 1,60 ± 0,76 mm. CONCLUSÕES: 1- Existiu uma pequena possibilidade de não haver pedículos perfurantes. 2- Quando presentes, os pedículos perfurantes do ramo descendente da artéria circunflexa lateral femoral eram encontrados em numero de 1 a 4, sempre em um raio de 6 cm a partir do ponto médio entre a espinha ilíaca ântero-superior e a borda lateral da patela. 3- Os trajetos dos pedículos perfurantes eram predominantemente músculo-cutâneos. 4- A trajetória intramuscular encontrada foi predominantemente indireta. 5- O comprimento do trajeto intramuscular correspondeu a 31,69% do comprimento total do pedículo. 6- O comprimento total do pedículo se mostrou adequado tanto para transferências locais como à distancia por técnicas microcirúrgicas. 7- Os diâmetros dos vasos, tanto da artéria quanto das veias, se mostraram adequados para a realização de anastomoses microcirúrgicas. 8- A espessura do retalho encontrada foi significantemente maior nas coxas de indivíduos femininos, mas tanto nos homens quanto nas mulheres a espessura foi relativamente fina. / INTRODUCTION: The anterolateral thigh flap is based on the perforator vessels of the descending branch of the lateral circumflex femoral artery. This flap has very interesting characteristics for the reconstructive surgery, like the small thickness, long pedicle and excellent donor site. On the other hand, there are many controversial data on the literature about the perforator vessels and the pedicle course of this flap. The aims of this study are to establish some anatomical parameters and clear some controversies. METHOD: A hundred thighs of 50 cadavers were studied for: 1- The number and location of the perforator vessels. 2- The course of the perforator pedicles. 3- The intramuscular course. 4- The length of the intramuscular course. 5- The total length of the vascular pedicle. 6- The diameter of the vessels. and 7- The thickness of the flap. RESULTS: 1- There were found from 0 to 4 perforators per thigh, all in a 6cm radius from the mid point between the anterosuperior iliac spine and the lateral border of the patella. 2- The pedicles was musculocutaneous in 75,76% of the thighs and septocutaneous in 24,24%. 3- Among the musculocutaneous pedicles, 86,67% had a direct intramuscular course, and 13,33% had indirect course. 4- The mean length of the intramuscular course was 3,67 ± 2,01 cm. 5- The mean total pedicle length was 11,31 ± 3,12 cm. 6-The mean artery diameter on the origin of the descending branch of the lateral circumflex femoral artery was 2,21 ± 0,85 mm and the mean vein diameter on the same spot was 2,66 ±1,33 mm and 2,10 ± 1,11 mm. 7- The mean subcutaneous fat tissue thickness was 8,98 ± 6,23 mm and the mean skin thickness was e 1,60 ± 0,76 mm. CONCLUSIONS: 1- There was a possibility of finding no perforators of the descending branch of the lateral circumflex femoral artery. 2- When present, the perforators pedicles were found in numbers between 1 to 4, always in a 6cm radius from the mid point between the anterosuperior iliac spine and the lateral border of the patella. 3- The perforators pedicles courses were predominantly musculocutaneous. 4- The intramuscular courses were mainly indirect. 5- The intramuscular length was responsible for 31,69% of the total length of the vascular pedicle. 6- The total length of the pedicle was adequate for either local or microsurgical transfers. 7- The arterial and venous diameters were adequate for microsurgical anastomosis. 8- The female cadavers had significantly thicker flaps, but both in the male and the female cadavers the flap was considerably thin.