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1.
Fetal Pediatr Pathol ; 42(4): 675-678, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36762726

RESUMO

Background: Congenital epulis is a benign gingival tumor whose differential diagnosis includes other oral-facial masses such as teratoma, hemangioma, lymphatic malformation and dermoid cysts. This tumor can cause obstruction of the airway or feeding problems in the newborn. Surgical excision is the treatment of choice. Case Report: We present a case of congenital epulis, diagnosed prenatally with ultrasonography. Conclusion: Although difficult, a defined prenatal image of congenital epulis is possible by means of accurate high-resolution ultrasonography. It facilitates the narrowing down of differential diagnosis. The confirmatory final diagnosis relies on histopathological examination.


Assuntos
Neoplasias Gengivais , Hemangioma , Gravidez , Feminino , Recém-Nascido , Humanos , Neoplasias Gengivais/diagnóstico por imagem , Neoplasias Gengivais/congênito , Ultrassonografia Pré-Natal/métodos , Diagnóstico Diferencial , Hemangioma/diagnóstico
2.
Clin Case Rep ; 10(12): e6782, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36590667

RESUMO

Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.

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