NUMERO: #20240849

Título: SOTOS SYNDROME: OVERLAPPING OF MULTIPLE PHENOTYPES WITH OTHER SYNDROMES ASSOCIATED WITH AUTISM

Nome do Apresentador: Helder Domiciano Dantas MARTINS

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Estomatologia

Resumo: Sotos syndrome, often characterized by distinctive facial features, shares common phenotypes with other syndromes associated with autism. This report is about a 3 years-old white female patient diagnosed with Autism Spectrum Disorder and developmental delays, including multiple carious lesions. Physical examination revealed craniofacial dysmorphism with significant frontal prominence and a dolichocephalic profile, along with tall stature and elongated upper limbs. Intraoral examination showed early eruption of the left permanent lower molar and carious lesions in deciduous teeth, indicating poor oral hygiene. These findings led to a diagnostic hypothesis of Sotos syndrome. An echocardiogram and auditory electrophysiology were performed to assess potential cardiac and auditory involvement, both of which were normal. Diagnostic confirmation was sought through whole exome sequencing, which identified a potentially pathogenic heterozygous variant in the NSD1 gene, linked to Sotos syndrome. Due to the possible systemic impacts, the patient is under periodic multidisciplinary team surveillance.

Autor 1:  Helder Domiciano Dantas MARTINS

E-mail 1:  [email protected]

Autor 2:   Livian Isabel de Medeiros Carvalho

E-mail 2:  [email protected]

Autor 3 :  Ana Carolina Lyra de Albuquerque

E-mail 3:  [email protected]

Autor 4:  Maria Sueli Marques Soares

E-mail 4:  [email protected]

Autor 5:  Hercilio Martelli Junior

E-mail 5:  [email protected]

Autor 6:  Cristiane Araújo Maia Silva

E-mail 6:  [email protected]

Autor 7:  Paulo Rogerio Ferreti Bonan

E-mail 7:  [email protected]