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American journal of medical genetics. Part A · 2025

Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report.

Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Aşık Aslı, Fırıncıoğulları Ezgi Cansu, Avcı Durmuşalioğlu Enise, Çoğulu Dilşah, Atik Tahir, Erdinç Aslıhan Mediha, Cogulu Ozgur

Аннотация

Bainbridge-Ropers Syndrome(BPRS) is a rare autosomal dominant genetic disorder resulting from heterozygous mutations in the ASXL3(Additional Sex Comb-Like 3) gene located on chromosome 18q12. To date, only 45 cases have been documented in the literature. BPRS is characterized by a range of clinical features, including feeding difficulties, hypotonia, distinctive dysmorphic facial features, high-arched palate, and intellectual disability. This case report aims to present two pediatric patients diagnosed with BPRS, emphasize newly identified oro-dental manifestations, and propose a comprehensive dental management plan. In Case #1, a 10-year-old female patient presented to the clinic with concerns of developmental delay and spinal deformity. Physical examination revealed trigonocephaly, thoracic kyphosis, strabismus, hirsutism, bitemporal narrowing, and bilateral coxa valga. Additionally, the patient exhibited failure to thrive, language difficulties, and mild intellectual disability. Oral examination identified a high-arched palate, fibrotic frenulum, narrow maxilla, and posterior crossbite. In Case #2, a 6-year-old female patient presented with developmental delay, language difficulties, and mouth breathing. Physical findings included trigonocephaly, bitemporal narrowing, strabismus, hirsutism, and arched eyebrows. Oral examination revealed a high-arched palate, narrow maxilla, and open bite. For both cases, preventive dental interventions were implemented, including the application of fissure sealants, fluoride varnishes, dietary regulation, and the use of interceptive orthodontic appliances. Children diagnosed with BPRS require ongoing medical and dental management through a multidisciplinary approach to address the complex and varied manifestations of the disorder effectively.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты