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1.
Cleft Palate Craniofac J ; 53(3): 373-6, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26090788

RESUMO

In a retrospective review of patients seen at the University of Alabama at Birmingham Cleft and Craniofacial Center, four patients with rare interrupted clefting were identified who had undergone genetic testing. Each of these patients had a typical cleft lip, with intact hard palate and cleft of the soft palate. Given this picture of mixed clefting, IRF6 sequencing was done and was negative for mutations in all four patients. As genetic testing for single-gene mutations and exome sequencing become clinically available, it may be possible to identify novel mutations responsible for this previously unreported type of interrupted clefting.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fatores Reguladores de Interferon/genética , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Lactente , Masculino , Estudos Retrospectivos
2.
Surg Radiol Anat ; 30(1): 37-40, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18049791

RESUMO

AIM: Many authors have included the V2 segment of the trigeminal nerve as a component of the cavernous sinus. However, many authorities have stated that this part of the fifth cranial nerve is not within this intracranial venous sinus. MATERIALS AND METHODS: To further elucidate this potentially important relationship, 10 fresh cadaveric heads underwent injection of the cavernous sinus with blue latex or a cresyl-violet solution. Subsequent sectioning in the coronal plane in 1 cm sections from the level of the trigeminal ganglia anteriorly to the level of the superior orbital fissure was made. Observations were then made between the relationships of the cavernous sinus and the V2 nerve. RESULTS: On all 20 sides, the V2 segment of the trigeminal nerve did not have filling of latex or cresyl-violet mixture lateral to it thus implying that this part of the trigeminal nerve is not found within the cavernous sinus. Two sides did demonstrate an emissary vein that traveled with the V2 part of the trigeminal nerve through the foramen rotundum toward the cavernous sinus. CONCLUSIONS: Based on our findings, the V2 part of the trigeminal nerve is not found bathed with venous blood within the cavernous sinus. Reports that state the contrary may have confused laterally positioned emissary veins as being part of the cavernous sinus and therefore erroneously concluded that V2 was within this cranial venous sinus. These data may prove useful to neurosurgeons that operate in the region of the cavernous sinus or to radiologists who interpret imaging of this area.


Assuntos
Seio Cavernoso/anatomia & histologia , Nervo Maxilar/anatomia & histologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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