Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiology is heterogeneous, highly variable and most of the cases are idiopathic. However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/BBB syndrome, oculofaciocardiodental syndrome and Robinow syndrome (autosomal dominant). The supernumerary teeth should be considered in order to possibly diagnose these entities with the aim of offering an interdisciplinary management and treatment, as well as offer adequate family genetic counseling.

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Main genetic entities associated with supernumerary teeth.

The sternoclavicular joint (SCJ) is anatomically and clinically significant considering its proximity to important neuro-vascular structures like the subclavian vessels and the phrenic nerve. Infections of this joint masquerade multiple disorders, delay diagnosis and spread to the bone and deep tissues. There is no standardized workup and treatment protocol for sternoclavicular joint infections (SCJI) as defined in literature. Here, we review the existing literature to understand the current knowledge of the diagnosis and treatment of SCJI. We searched English publications in PubMed and included clinical trials, case reports, case series, retrospective cohort studies, literature and systematic reviews after excluding non-infectious etiology of SCJ pathologies. There are many risk factors for SCJI, such as immunocompromised status, intravenous drug use, trauma and arthropathies. But a large percentage of patients with disease have none of these risk factors. SCJIs can present with fever, joint swelling, immobility, and rarely with vocal cord palsy or dysphagia. While Staphylococcus aureus causes over 50% of SCJI cases, other pathogens such as Pseudomonas and Mycobacterium are frequently seen. When diagnosed early, the infection can be medically managed with antibiotics or joint aspirations. Most cases of SCJI, however, are diagnosed after extensive spread to soft tissue and bones requiring en-bloc resection with or without a muscle flap. Complications of undertreatment can range from simple abscess formation to mediastinitis, even sepsis. SCJIs are rare but serious infections prompting early detection and interventions. Most cases of SCJI treated adequately show complete resolution in months while retaining maximum functionality. Key features of proper healing include aggressive physiotherapy to prevent adhesive shoulder capsulitis and decreased range of motion.

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Diagnosis and management of sternoclavicular joint infections: a literature review

Patients who undergo primary total hip (THA) and knee (TKA) arthroplasty show better clinical outcomes, improved quality of life and increased participation in leisure activities; however, the differences between primary THA and TKA in older patients are unknown. The aim of the study was to compare the Western Ontario and McMasters University osteoarthritis index (WOMAC) scores and changes in WOMAC scores, the Medical Outcomes study 12-item short-form version 2 (SF-12) mental and physical health scales, satisfaction and frequency of participation in leisure activities in older osteoarthritis patients with a mean age of 67.9 ± 10.6 years who underwent primary THA and TKA. Data from 170 THA and 169 TKA patients were collected 1 week preoperatively through self-reporting of WOMAC scores and SF-12. These parameters, level of satisfaction and frequency of participation in leisure activities were collected 1 year postoperatively by self-reporting questionnaires. The THA group of patients showed better WOMAC scores (P < 0.05), changes in WOMAC scores (P < 0.05), physical component summary (PCS) of SF-12 (P < 0.01) and changes in PCS scores (P < 0.01) compared with the TKA group. In addition, the THA patients showed higher overall satisfaction (91.90% vs. 83.60%), pain relief satisfaction (87.20% vs. 77.40%) and functional improvement satisfaction (90.10% vs. 83.08%) in comparison with the TKA patients. Furthermore, a higher frequency of participation in leisure activities was achieved in THA patients, except for intellectual leisure activities. These findings suggest that primary THA provides superior clinical outcomes, quality of life, satisfaction, and participation in leisure activities compared with primary TKA in older patients.

Differences in 1‑year outcome after primary total hip and knee arthroplasty : A cohort study in older patients with osteoarthritis.

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity. We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below − 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient’s mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I. Clinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures.

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An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.

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Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists

Las fracturas por estres afectan, con mayor frecuencia, a personas fisicamente activas con hueso normal y son infrecuentes en los ninos con placa de crecimiento abierta. Aun mas infrecuentes son las fracturas por estres del cuello femoral en la poblacion pediatrica. Sin embargo, constituyen entidades muy importantes debido al riesgo de complicaciones graves, como la necrosis avascular. Se describe el caso de una nina de 7 anos medicada con metilfenidato que sufrio una fractura por estres del cuello del femur atipica. La paciente consulta por dolor inguinal derecho sin limitaciones en las actividades cotidianas. La radiografia muestra una fractura por estres del cuello del femur, que se confirma con tomografia. Se instaura un tratamiento conservador, y la paciente esta asintomatica a las cuatro semanas. Este caso representa una alerta sobre esta infrecuente entidad en la que podrian presentarse errores diagnosticos. Investigaciones recientes tambien sugieren la posible participacion de farmacos, como el metilfenidato, en la desmineralizacion osea, que podria constituir un posible factor de riesgo de fractura. AbstractStress fractures most commonly affect physically active individuals with normal bone, and they are rare in children with open growth plates. Even rarer are femoral neck stress fractures in pediatric age. Nevertheless, they constitute a very important entity due to the risk of severe complications, such as avascular necrosis. A seven-year-old girl, treated with methylphenidate, who suffered an atypical femoral neck stress fracture is presented. Patient complained of right inguinal pain without daily life activity limitations. The radiograph showed a stress femoral neck fracture, confirmed by CT imaging. Conservative treatment was instituted and the patient became asymptomatic after 4 weeks.This case report alerts the clinicians about this rare entity that might be misdiagnosed. Recent research also suggests a possible involvement of drugs, such as methylphenidate, in bone demineralization, which might constitute a possible risk factor for fractures.

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Fractura por estrés del cuello del fémur en una niña hiperactiva tratada con metilfenidato. Reporte de caso. [Femoral neck stress fracture in a hyperactive child taking methylphenidate. Case report].

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.

https://downloads.hindawi.com/journals/crig/2013/748057.pdf

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Sternoclavicular arthritis is an unusual osteoarticular infection and can be associated with severe complications. Cases in a paediatric population are infrequently reported, making this approach challenging. Kingella kingae is an agent of increasing recognition in paediatric invasive infections, principally below 2 years of age. A case of K. kingae osteoarthritis in a 17-month-old child is described with a review of the literature.

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Kingella kingae sternoclavicular osteoarthritis

Vaginal bleeding can occur shortly after delivery in 3%-5% of newborns as a consequence of placental hormone withdrawal . Although usually benign, its differential diagnosis includes central precocious puberty, tumours and other pathological conditions. A girl born at 26 weeks of gestation presented with five episodes of vaginal bleeding, each lasting less than a week, initiated at 4 months of age. Luteinising hormone and oestradiol levels were in the pubertal range. Later, she exhibited breast development, with no other pubertal signs. An ultrasonography test revealed an impregnated endometrium and a right ovarian cyst with 43 mm of diameter. A cranioencephalic MRI was unremarkable. Clinicians adopted expectant management and there was clinical, hormonal and radiological resolution in 3 months. The spontaneous resolution suggested mini-puberty of infancy. This is usually an asymptomatic condition, but to date, four cases of an exacerbated form in extremepremature infants have been reported. Long-term follow-up data are missing.A girl born at 26 weeks of gestation presented with five episodes of vaginal bleeding, each lasting less than a week, initiated at 4 months of age. Luteinising hormone and oestradiol levels were in the pubertal range. Later, she exhibited breast development, with no other pubertal signs. An ultrasonography test revealed an impregnated endometrium and a right ovarian cyst with 43 mm of diameter. A cranioencephalic MRI was unremarkable. Clinicians adopted expectant management and there was clinical, hormonal and radiological resolution in 3 months. The spontaneous resolution suggested mini-puberty of infancy. This is usually an asymptomatic condition, but to date, four cases of an exacerbated form in extremepremature infants have been reported. Long-term follow-up data are missing.

Exacerbated mini-puberty of infancy in an ex-extreme preterm girl.

Introduction:  Congenital pseudarthrosis of the clavicle (CPC) presents as a congenital painless swelling over the mid-third of the clavicle, mostly on the right side and females, that persists over lifetime with no functional limitations. Purpose: Present a 12 years follow-up case of CPC and literature review. Clinical Case: A full-term newborn boy, with uncomplicated pregnancy and vaginal delivery, presented with a firm bony protuberance (1x1cm), in the mid-third of the right clavicle without functional limitations and no other physical examination abnormality. The X-ray identified a bony defect in the mid-third of the right clavicle with smooth, regular, intact/sclerotic cortex and without any evidence of callus formation. The diagnosis of CPC was performed. Over the twelve follow-up years, he kept asymptomatic, without functional limitations and normal physical and skeletal development. Over time, the X-rays showed the same bone defect with the same characteristics. At fourth years old, surgery was proposed for aesthetic reasons but parents refused. Conclusions:  Although rare, CPC can be easily diagnosed through characteristic physical examination findings and radiographic hallmarks. It is essential to exclude other differential diagnosis, like clavicular fracture or rare bone diseases, and be able to reassure parents, explaining the benign nature of this condition.

https://www.spmfrjournal.org/index.php/spmfr/article/download/277/173

Mafalda Santos

Papers

Fractura por estrés del cuello del fémur en una niña hiperactiva tratada con metilfenidato. Reporte de caso. [Femoral neck stress fracture in a hyperactive child taking methylphenidate. Case report].

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Kingella kingae sternoclavicular osteoarthritis

Exacerbated mini-puberty of infancy in an ex-extreme preterm girl.

Pseudartrose Congénita da Clavícula