Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated.MethodsWe collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations.ResultsSixty-six patients in 48 families (33 males/females; 0–59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype–phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE.ConclusionThis first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review

Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.

The mechanobiology of craniosynostosis in Crouzon syndrome

Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures. While surgical correction is reliable, the need for repeated rounds of invasive treatment puts a heavy burden on the child and their family. This study explores a non-surgical alternative using mechanical loading of the cranial bones to prevent or delay craniosynostosis and its effects. We treated Crouzon syndrome mice before the onset of craniosynostosis by mechanical loading of cranial bones. Cranial loading applied to the frontal bone caused partial normalisation of skull shape, reducing the typical brachycephalic appearance. This is underpinned by the delayed closure of the coronal suture and of the intersphenoidal synchondrosis. This study provides a novel treatment alternative for syndromic craniosynostosis which has the potential to be an important step towards replacing, reducing or refining the surgical treatment of craniosynostosis patients.

Van Neck Disease: A Rare Case

Hyperostosis of the ischiopubic synchondrosis, van Neck disease, is a rare skeletal abnormality in children. Asymmetric and delayed closure of this cartilaginous joint is considered as a normal phenomenon. The symptomatic presentation of this pathology often mimics other closely related conditions like stress fracture, infection, or tumor. We are presenting a case of van Neck disease in the nondominant limb of an eleven-year-old boy.

Early takedown of a defunctioning ileostomy, is there a downside? – a prospective analysis from Rural Bengal

Background: Since the pilot study in 2002, many studies have evaluated the feasibility of an Early Ileostomy takedown by 2 weeks, thus decreasing the stoma related morbidity. However, in a developing country like India, this paradigm shift is still debatable. Our study from a tertiary teaching rural hospital in Bengal evaluates the feasibility of Early takedown by 2 weeks and compares it to a more accepted concept of Ileostomy takedown by 8-10 weeks.Methods: This prospective longitudinal comparative study conducted from February 2018 to July 2019, in our institute. Sample size was calculated to be 30 in each group. The early closure went a takedown at 2 weeks and the delayed closure underwent a takedown by 8-10 weeks. Data was analysed with Fischer’s exact or Chi square test, student’s t test. A p value of 0.05 was significant.Results: Our set of rural patients, had more stoma related complications due to lack of stoma care (13.33% vs 3.33%, EC vs DC). Intraoperative adhesions (26 vs 12, p=0.0004) significantly increased operative time (126.1667±27.5895 vs 86.0000±34.2506, EC vs DC, p<0.001), leading to post-operative complications hence, the Length of hospital stay was more in the early subset (17.9667±6.9851 vs 11.2000±4.0548, EC vs DC, p<0.001).Conclusions: An early takedown of a defunctioning ileostomy, may be a technically difficult procedure to perform, has more post-operative complications and is discouraged, in our opinion.

Does Use of a Feeding Protocol Change Outcomes in Gastroschisis? A Report from the Midwest Pediatric Surgery Consortium

Introduction Gastroschisis feeding practices vary. Standardized neonatal feeding protocols have been demonstrated to improve nutritional outcomes. We report outcomes of infants with gastroschisis that were fed with and without a protocol. Materials and Methods A retrospective study of neonates with uncomplicated gastroschisis at 11 children's hospitals from 2013 to 2016 was performed.Outcomes of infants fed via institutional-specific protocols were compared with those fed without a protocol. Subgroup analyses of protocol use with immediate versus delayed closure and with sutured versus sutureless closure were conducted. Results Among 315 neonates, protocol-based feeding was utilized in 204 (65%) while no feeding protocol was used in 111 (35%). There were less surgical site infections (SSI) in those fed with a protocol (7 vs. 16%, p = 0.019). There were no differences in TPN duration, time to initial oral intake, time to goal feeds, ventilator use, peripherally inserted central catheter line deep venous thromboses, or length of stay. Of those fed via protocol, less SSIs occurred in those who underwent sutured closure (9 vs. 19%, p = 0.026). Further analyses based on closure timing or closure method did not demonstrate any significant differences. Conclusion Across this multi-institutional cohort of infants with uncomplicated gastroschisis, there were more SSIs in those fed without an institutional-based feeding protocol but no differences in other outcomes.