Shprintzen-goldberg craniosynostosis: craniofacial and oral characteristics, diagnosis, and clinical management of a very rare syndrome Craniossinostose

Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide. This study aimed to present a case report of a 6-year-old female Brazilian child with Shprintzen-Goldberg’s craniosynostosis syndrome. We described the craniofacial and oral characteristics and its clinical management, comparing to the existing literature. The patient presented with intellectual disability, craniosynostosis, ocular proptosis, low-set anomalous ears, and other skeletal and connective tissue defects. Oral features included malocclusion, micrognathia, pseudo-cleft palate, dental caries, and inefficient biofilm control. The treatment started with guidance on cariogenic foods, oral hygiene, and an indication to discontinue bottle feeding. Subsequently, the carious lesions were restored with composite resins, and the patient was referred for orthopedic surgery, orthodontic treatment, speech therapy, and nutritional counseling. The patient was followed for 5 years. This case report emphasizes the importance of knowing the craniofacial and oral characteristics for the diagnosis and clinical management of a female child with a rare Shprintzen-Goldberg’s craniosynostosis syndrome. The case also highlights the need for oral health care in individuals with intellectual disabilities.

Thus, this study aimed to present a case report of a 6-year-old female Brazilian child with the rare Shprintzen-Goldberg's craniosynostosis syndrome, including the craniofacial and oral characteristics and its clinical management, comparing to the existing literature.

CASE REPORT
A 6-year-old female patient was referred for dental treatment at a specialized center.The child's parents signed a term of free informed consent to permit documentation of this clinical case.The diagnosis of SGCS was confirmed by a geneticist.
During anamnesis, the caregiver recalled that the child had respiratory problems but did not require continuous medication.The general physical examination verified that she had arachnodactyly, camptodactyly, congenital clubfoot, genu recurvatum, pectus excavatum, scoliosis, and dislocation and hypermobility of the joints.The presence of hypotonia, delayed development, intellectual disability, obstructive sleep apnea, and hyperelasticity of the skin, were also observed.
During the intraoral clinical examination, maxillary hypoplasia, dental malocclusion, and micrognathia were evident.The patient presented with a high-arched palate with prominent palatine ridges, pseudo-cleft palate, mouth breathing, plaque accumulation, caries lesions, dental restorations, and tooth loss (#51) due to dental trauma (figure 2).The use of bottle feeding, difficulty in swallowing solid food due to malocclusion, occasional gagging, and a very cariogenic diet, were confirmed.A three-dimensional computed tomography was obtained (figure 3), in which the presence of dolichocephaly, midfacial hypoplasia, and micrognathia was evident.Table 1 shows the craniofacial and dental features and other characteristics of patients with SGCS as described in the literature [1,2,5-12] and compared with the patient in this clinical report.The first phase of care consisted of orientation concerning cariogenic foods, discontinuation of the use of bottle feeding, and motivating the family members.Then, the restorative phase was initiated, which involved composite resin restorations.The patient was referred for orthopedic surgery, orthodontic treatment, speech therapy, and nutritional counseling, to help improve her quality of life and reduce the risk of dental caries.
The patient was followed periodically for 5 years, with monthly visits to the dentist (figure 4).
Each follow-up included topical application of fluoride, dental sealants, oral hygiene with fluoride dentifrice, and gingival health maintenance.

DISCUSSION
A comparison of the physical characteristics reported in the literature was performed on 75 patients with SGCS (43 males and 32 females) and compared with the clinical case described.A higher prevalence was verified among males RGO, Rev Gaúch Odontol.2022;70:e20220042  [1,5,7,8].However, there were several reports of females with this syndrome [6,7].This is probably a casual finding since the two genes linked to the syndrome are autosomal, i.e., they show no sex preference among those affected.Likewise, because it is a Mendelian entity with autosomal dominant inheritance, finding an important discrepancy between the sexes would be unexpected.
Dental characteristics, such as maxillary hypoplasia [1,[5][6][7][8]10], dental malocclusion [6,7], micrognathia [1,[5][6][7][8]10], high-arched palate with prominent palatine ridges [1,5,7], pseudo-cleft palate (1), and mouth breathing [1,5,6,8,9], have been reported in the clinical diagnosis of SGCS.These dental characteristics were observed in the present case, corroborating the findings in the literature.It is important to mention that the dental approach to patients with SGCS should involve the integration of a multidisciplinary dental team (e.g., pediatric dentistry, special care needs, and orthodontics) to prevent dental diseases and manage dental changes, thereby maintaining good oral health and improving patient´s quality of life.This SGCS case report described caries risks and caries activity.These may be related to the difficulty in biofilm control, probably due to arachnodactyly, micrognathia, and malocclusion.Moreover, the patient's parents showed low adherence to maintaining a sugar-restricted diet and avoiding the intake of soft drinks and other sugar-rich beverages.It is easy to inculpate sugar intake.However, doing so draws attention away from other important problems.In this case, to prevent gagging, a soft food diet was the child's main source of nutrition.
Caries risk assessment models currently consider a combination of factors, including diet, fluoride exposure, host susceptibility, and oral microflora, as well as cultural, social, and behavioral factors [13].The highest risk of dental disease has been reported in children from low-income families, among minorities, and those with special needs [14].Moreover, the American Academy of Paediatric Dentistry affirms that children with special healthcare needs are in the risk category of moderate caries risk [15].It is possible to improve the patient's quality of life, while concurrently reducing their risk of caries by developing a dental care plan adapted to a patient [16] that includes hygiene guidelines for caregivers and referring the patient to other health professionals, following a multidisciplinary management approach.
The recognition of clinical deviations based on the external morphological phenotype by the dentist is crucial for determining the etiologic factors, therapeutic planning, establishing patient prognosis, and genetic counseling.The best dental care for patients with SGCS should begin early in life.by clarifying their special oral hygiene needs with the parents to avoid unnecessary invasive treatment and reduce the risk of oral diseases.

CONCLUSION
This case report emphasizes the importance of knowing the craniofacial and oral characteristics for the diagnosis and clinical management of a female child with the very rare Shprintzen-Goldberg's craniosynostosis syndrome.The case also highlights the need for oral health care in individuals with intellectual disabilities.

Collaborators
DM VIEIRA, concepts literature search, definition of intellectual content, experimental study, manuscript preparation.FG SILVA, manuscript preparation, manuscript review.MB DINIZ, concepts, manuscript preparation, manuscript editing, manuscript review.MCD FERREIRA, experimental study, manuscript review.MTBR SANTOS, manuscript preparation, manuscript editing, manuscript review.RO GUARÉ, concepts literature search, definition of intellectual content, experimental study, manuscript preparation, manuscript review.

Figure 2 -
Figure 2 -Clinical examination showing plaque accumulation and higher caries risk.

Figure 4 -
Figure 4 -The patient after 5 years of dental care, with erupted permanent teeth.