NUMERO: #20250146

Título: EXTREMELY RARE SYNDROME WITH NEGATIVE EXOME, DIAGNOSED THROUGH CLINICAL EXAMINATION AND CRANIOFACIAL ABNORMALITIES

Nome do Apresentador: Paulo de camargo MORAES

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Estomatologia

Resumo: A 10-year-old white boy whose main complaint was difficulty chewing and swallowing. The mother had noticed abnormalities since he was 2 years old and sought help from several specialists, including endocrinologists, ophthalmologists, pediatricians, orthopedists, dentists, and geneticists, but no diagnosis was made.On general physical examination, he presented with strabismus, hypertelorism, low nasal bridge, prominent frontal bossing, pseudoprognathism, lower lip protruding over the upper lip, and upper third of the face predominating over the middle and lower thirds. He also had auricular abnormalities and genu valgum.Intraoral examination revealed conical teeth, malocclusion, and pseudoprognathism. Tomographic and radiographic evaluations showed nasal bone agenesis, taurodontism, tooth agenesis, globodontia, malformed roots, and malformed permanent teeth. He brought numerous test results, including genetic testing with a negative exome. After correlating the clinical, imaging, and laboratory findings, a diagnosis of Axenfeld-Rieger syndrome was made, a condition that occurs in approximately 1 in 200,000 live births.

Autor 1:  Ana mondadori dos SANTOS

E-mail 1:  ana. [email protected]

Autor 2:   marcelo SPERANDIO

E-mail 2:  [email protected]

Autor 3 :  Victor Angelo Martins MONTALLI

E-mail 3:  [email protected]

Autor 4:  Daniela Prata Tacchelli

E-mail 4:  [email protected]

Autor 5:  Marília Paiva dos SANTOS

E-mail 5:  [email protected]

Autor 6:  José luiz cintra JUNQUEIRA

E-mail 6:  [email protected]

Autor 7:  Paulo de camargo MORAES

E-mail 7:  [email protected]