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rev port estomatol med dent cir maxilofac . 2021;62(1):42-49 43

Abordagem odontológica na síndrome de Coffin Siris: Relato de caso

r e s u m o

Palavras-chave: Este artigo relata a abordagem da saúde oral de uma criança com a síndrome de Coffin Siris.
Relato de caso Esta síndrome é uma anomalia congénita multi-sistémica causada por mutações em genes
Síndrome de Coffin Siris do complexo BRG-1. Os indivíduos com esta síndrome apresentam hipo ou aplasia das unhas
Tratamento odontológico ou das falanges do quinto dedo. Outras características incluem deficiência de crescimento,
de crianças atraso de desenvolvimento intelectual e anormalidades do sistema de órgãos. O exame
Síndrome do quinto dígito clínico revelou hiperplasia gengival na arcada superior, presença de biofilme e cárie dentá-
ria nos molares decíduos e permanentes inferiores. Orientações sobre higiene oral e hábitos
alimentares foram fornecidas aos responsáveis, além da extração e restauração dos dentes
com cimento de ionómero de vidro. Este caso sugere que esses pacientes necessitam de
atendimento domiciliar e consultas odontológicas periódicas para tratamento preventivo e
sistemático para que se alcance a melhoria da qualidade de vida. A paciente está sendo
monitorizada e sua condição oral melhorou. (Rev Port Estomatol Med Dent Cir Maxilofac.
2021;62(1):42-49)
© 2021 Sociedade Portuguesa de Estomatologia e Medicina Dentária.
Published by SPEMD. This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/).

Due to the syndrome’s low frequency, diversity of symp-
Introduction 11
toms, and variability, definitive diagnosis is difficult. Since
Coffin-Siris syndrome (CSS), also known as the fifth-digit syn- dental management of these patients is not widely dis-
1
drome, was described in 1970 as a rare genetic disease. Since cussed in the literature, knowledge and identification of its
its first report in the literature, approximately 200 individuals main clinical and oral manifestations, such as delayed den-
2
were described worldwide with CSS; however, its prevalence tition, presence of crowding or diastemas, and atypical den-
3
and features have not been thoroughly investigated. It is tal defects, is of great importance to establish an early diag-
characterized by intellectual disability, microcephaly, coarse nosis and rehabilitation, as well as family referral to genetic
facial features, cleft lip and palate, short stature, ectodermal services. 12
defects (hypertrichosis, hirsutism, sparse hair, and dental Dental treatment of these patients must consider the de-
anomalies), scoliosis, loose joints, and hypoplastic fifth-digit gree of intellectual disability, clinical oral manifestations, such
nails. It may also be accompanied by respiratory tract infec- as possible cardiovascular anomalies, and oral impact and
tions, hearing loss, congenital heart defects, ophthalmic influence of possible medications. The literature gap of studies
anomalies, and feeding difficulties. During growth, the affect- on the dental treatment approach in individuals with this syn-
ed individual shows motor and language delay. 1,4,5 drome is noteworthy. The present study reports a case of a
CSS’s etiology has not yet been fully established, but it may patient with CSS submitted to dental treatment.
be related to possible autosomal dominant or recessive inher-
6
itance. Recently, mutations in the genes encoding the
BRG1-associated factor (BAF) chromatin-remodeling complex Case Report
(also known as the SWI/SNF-A complex), such as ARID1A,
ARID1B, ARID2, SMARCB1, SMARCA4, and SMARCE1, have been The authors obtained written informed consent from the pa-
pointed out as the cause of the syndrome. Mutations in the tient’s parents. This study is reported following the CARE
ARID1B gene have been accounted for 76% of mutations that guidelines (The CAse REport guidelines). 13
cause mild phenotypes. 2,7-9 The SOX11 gene, which partici- An eight-year-old female patient diagnosed with CSS
pates in the transcriptional regulation of the BAF complex and sought treatment at the School of Dentistry’s outpatient clin-
plays an important role in neurodevelopment, has also been ic, accompanied by her father, with the main complaint of
10
identified. It is more prevalent in females, in a ratio of 4:1, spontaneous pain in a posterior tooth. During anamnesis, her
although clinical characteristics are similar in both sexes. 1 father reported that the geneticist had referred the child to
Currently, the diagnosis of CSS is based on clinical find- dental treatment and that she was born with physical defor-
4
ings. The combination of characteristics such as coarse facial mities, moderate mental retardation, and frequent upper re-
features, hypoplasia of the fifth-digit nail, and development spiratory tract infections. The patient had also been diagnosed
6
delay suggests the presence of the syndrome. It has become with an atrial septal defect, repaired without residual shunts.
important to rule out disorders that present with similar clin- She had not been on any continuous medication.
ical characteristics, such as the Coffin-Lowry and Cornelia de The patient had undergone genetic counseling, and the
Lange syndromes. 4 clinical diagnosis was CSS. She had also been referred to a