Does dental caries lead to stunting and wasting in children?

Design This was a systematic review of the evidence on the impact of dental caries severity and prevalence on undernutrition (wasting and stunting) in children.Study selection The systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered with PROSPERO (registration number CRD42018091581). A database search of Medline and Embase was conducted in March 2018 with an updated search in July 2019. Participants were children aged 0-18 years from countries of different income groups. The exposure variable was dental caries reported as prevalence, incidence and/or severity, or changes in those variables. The outcome variable was undernutrition; specifically, wasting (low weight-for-height) and stunting (low height-for-age) in children.Data analysis Evidence was grouped into caries of the permanent dentition, primary dentition, early childhood caries and severe early childhood caries as a risk factor for undernutrition. A best-available-evidence approach was applied to narrative synthesis. Evidence synthesis by vote counting was depicted using harvest plots. The heterogeneous nature of the data prevented a meta-analysis from being appropriate.Results Of the 2,690 studies identified, 117 underwent quality assessment, resulting in 46 studies for narrative synthesis and 38 pertaining to wasting or stunting included in vote counting. The majority of studies were cross-sectional (33 studies).For the permanent dentition, the balance of evidence showed generally no association between caries prevalence or severity with wasting. For the primary dentition, positive associations between dental caries prevalence and severity with wasting, as well as between dental caries prevalence and severity with stunting, were reported. Conclusions Overall, the authors concluded that the balance of evidence favoured an association between dental caries in the primary dentition and undernutrition in children but highlighted the complexity of synthesising dental and nutritional data along with dentition type, age of child participants and income status of countries.

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

BACKGROUND: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. CASE PRESENTATION: The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). CONCLUSIONS: This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contractures, camptodactyly, widely spaced teeth, and constriction rings. We also propose novel occasional features including craniosynostosis, ocular pterygia, anterior chamber cleavage syndrome, early osteoporosis, increased pigmentation, recurrent haematomas, predisposition to cellulitis, nail dystrophy, carpal tunnel syndrome, recurrent hypoglycaemia in infancy, joint dislocation, and splenomegaly. Importantly, we report fusiform aneurysm of the basilar artery in two patients. Complications include thrombosis and stroke in the oldest reported patient and fatal rupture at the age of 21 in the patient with the novel variant. We conclude that cerebrovascular complications are part of the phenotypic spectrum of KOGS and KOGS-like disorders and suggest vascular imaging is indicated in these patients.

GAPO syndrome with craniosynostosis and intracranial hypertension.

BACKGROUND: GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy. It was reported to be associated with craniosynostosis and intracranial hypertension. CASE REPORT: A patient with such a rare disorder associated with multisuture craniosynostosis and headache is presented. Surgery has been done due to intracranial hypertension. CONCLUSIONS: Abnormal intraoperative findings including sever pericranium and dural adhesions and extraordinary bleeding related to this syndrome are described.

GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature.

GAPO syndrome is characterized by growth retardation, alopecia, pseudoanodontia, and ophthalmic abnormalities. This very rarely reported syndrome affects various ethnic groups and can present with manifestations other than those usually reported. Pseudoanodontia is a rare clinical and radiologic manifestation that is always associated with GAPO syndrome. Osteomyelitis of the jaws is a less common disease that is usually attributed to odontogenic causes. This case report describes osteomyelitis of the mandible in a patient with GAPO syndrome. Further, an additional 3 cases of GAPO in the patient's family, with special emphasis on oral mucosal changes and pseudoanodontia, are discussed.

GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.

Premature ovarian insufficiency has the following causes: genetic, autoimmune, metabolic, infectious, and iatrogenic dysfunctions (including radiotherapy, chemotherapy and surgery). However, premature ovarian insufficiency remains without a definite cause in a substantial number of cases. This article describes GAPO syndrome in association with premature ovarian insufficiency, as well as a novel ANTXR1 gene mutation. Histopathological study of the ovaries of a woman with hypergonadotropic hypogonadism revealed extensive deposition of hyaline extracellular material, with bilateral parenchymal atrophy and follicular depletion. Molecular study revealed a novel ANTXR1 gene mutation. The homozygous c.378 + 3A > G transition at the consensus donor splice site of intron 4 was identified. Our results support the involvement of ANTRX1 gene mutations in deregulated extracellular matrix. In addition, our study identified a novel ANTXR1 mutation causing GAPO syndrome, indicating it as a new cause of early loss of ovarian function.

Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.

A 37-year-old male, previously diagnosed with GAPO syndrome, was admitted to our hospital complaining of recurrent episodes of transient weakness and numbness in his left arm for 3 months, and severe headache with progressive dysphagia for 15 days. His cranial magnetic resonance (MR) images showed multiple ischemic foci in the bilateral periventricular and supraventricular white matter. Cerebral MR-angiography showed total occlusion of the right internal carotid artery and moderate stenosis in the left internal carotid. We also detected chronic thrombotic changes in the distal left sigmoid sinus, proximal right sigmoid sinus, and bilateral jugular veins on cerebral MR-venography. He was diagnosed with dilated cardiomyopathy at age 31 years, which was reported as a novel association; and later he had a myocardial infarction at age 34 years. To the best of our knowledge, this is the first patient with GAPO syndrome and arterial atherosclerosis in cerebral-as well as coronary-arteries and intracranial venous thrombosis. We report the evolution of the disease in this patient, who died at age 38 years due to respiratory failure secondary to lower respiratory tract infection.

[Terminology and manifestations of eruption disturbances]. / Terminologie en vormen van eruptiestoornissen.

Eruption disturbances of teeth are not unusual; many variations are encountered and eruption disturbances can negatively influence the development of the tooth and jaw system. Causes of eruption disturbances can be categorized into general and local factors. The clinical spectrum of eruption disturbances involves syndromic and non-syndromic problems for both kinds of factors, varying from delayed eruption to primary failure of eruption. The following types of eruption disturbances should be distinguished: impaction, primary retention, secondary retention and primary failure of eruption. Early detection of eruption disturbances and timely and appropriate treatment of the various eruption disturbances play an important role in preventing the negative effects of eruption disturbances on the development of the dentition and the craniofacial skeleton.

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.

Background: Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide. In the Chinese population, cases of MAD associated with the MTX2 variant have never been reported. Methods: The clinical symptoms and the genetic analysis were identified and investigated in patients presented with the disease. In addition, we analyzed and compared 7 MADaM cases reported worldwide and summarized the progeroid syndromes reported in the Chinese population to date. Results: The present study reports a case of a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature. Patients present with early onset and severe symptoms and soon after birth are found to have growth retardation. In addition to the progeroid features, skeletal deformities, generalized lipodystrophy reported previously, and other multisystem involvement, e.g. hepatosplenic, renal, and cardiovascular system, this case was also reported to have combined hypogammaglobulinemia. She has since been admitted to the hospital several times for infections. Among 22 previously reported progeroid syndromes, 16/22 were MADA or HGPS caused by LMNA gene mutations, and the homozygous c.1579C > T (p.R527C) mutation may be a hot spot mutation for MAD in the Chinese population. MAD and HGPS mostly present in infancy with skin abnormalities or alopecia, MDPL mostly presents in school age with growth retardation as the first manifestation, and is often combined with an endocrine metabolism disorder after several decades. Conclusion: This is the first case of MAD syndrome caused by mutations in MTX2 gene reported in the Chinese population. MTX2 gene c.378 + 1G > A homozygous mutation has not been previously reported and the report of this patient expands the spectrum of MTX2 mutations. In addition, we summarized the genotypes and clinical characteristics of patients with progeroid syndromes in China.

Childhood stunting and caries increment in permanent teeth: a three and a half year longitudinal study in Peru.

BACKGROUND: Malnutrition has been consistently associated with caries in primary teeth, although an effect on permanent teeth has not been established because of the few longitudinal studies. AIM: To explore the association between stunting and caries increment in permanent teeth over 3.5 years. DESIGN: In 2003, 121 children aged 7-9 years were randomly selected from nine underserved communities in Lima (Peru). Parents provided demographic information and a food diary for their children. Clinical examinations included assessments of height, weight, oral hygiene, and dental caries. Stunting was defined using the 2000 CDC and 2007 WHO standards. In 2006, 83 children were re-examined, and the 3.5-year net DMFS increment was calculated. The association between stunting and net DMFS increment was assessed using negative binomial regression. RESULTS: Stunting was related to net DMFS increment after adjustment for sex and age, oral hygiene, sugary snacks between meals, and caries experience in primary and permanent teeth. Consistent results were found when using either the 2000 CDC (incidence rate ratio: 1.61; 95%CI: 1.07, 2.44) or 2007 WHO standards (IRR: 1.79; 95%CI: 1.28, 2.51). CONCLUSION: Stunting was a significant risk factor for caries increment in permanent teeth over a 3.5-year period, independent of other well-known risk factors for caries development.

Caries Incidence Is Associated with Wasting among Cambodian Children.

Evidence suggests that dental caries is associated with chronic and acute malnutrition, manifested as stunting and wasting in children. However, studies have not always appropriately accounted for confounding factors or for the temporal ordering between exposure and outcome. This study examined relationships between the development of caries lesions with subsequent stunting and wasting outcomes using data from a population-based cohort in Cambodia. Caries incidence was assessed based on the presence of a new cavitated carious lesion or a new pulpally involved lesion across a 6-mo observation period. Anthropometric measurements were taken at regular intervals. Effects of carious lesions on stunting and wasting were assessed using inverse probability treatment weighting, adjusting for potential confounders, using z scores for height-for-age (HAZ) and weight-for-height (WHZ) as outcomes. In total, 894 children (mean age 20 mo at baseline) were followed over 2 y. At baseline, 350 (39.1%) were identified as having stunting malnutrition. At follow-up, 58 (6.5%) had a new pulpally involved lesion. There was no association between incidence of cavitated or pulpally involved carious lesions at follow-up and stunting (relative risk [RR] = 1.06; 95% confidence interval [CI]: 0.75, 1.50). The incidence of pulpally involved carious lesions had an effect on wasting prevalence (WHZ <-2; RR = 1.35; 95% CI: 0.70, 2.62) and WHZ scores (average treatment effect = -0.294; 95% CI: -0.538, -0.050). This study offers evidence that the development of pulpally involved carious lesions has an effect on WHZ scores. Oral health promotion and clinical prevention and management of dental caries should be explored as interventions to promote normal growth and development among preschool children, particularly in low-income settings.

Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome.

Dubowitz syndrome is a rare genetic condition characterized by microcephaly, dysmorphic facial features and delayed general growth. It is transmitted through autosomal recessive inheritance. The purpose of this report is to describe the oral, craniofacial and systemic characteristics of a 7-year 11-month-old boy with Dubowitz syndrome and the dental management provided. The pediatric dentist should possess the ability to recognize this rare alteration, to provide dental treatment and to refer for the necessary medical and multidisciplinary treatment.

[Clinical dysmorphic syndromes with tumorigenesis]. / Klinické dysmorfické syndrómy s tumorigenézou.

Genetic alterations cause predisposition to malignancy by increased cancer risk related to constitutional mutations in growth-regulating or DNA repair genes. Some pediatric malignancies are associated with dysmorphic features in several body areas. Through physical examination, we recognise characteristic signs of genetic dysmorphic disorders, such as somatic overgrowth, undergrowth, macrocephaly, microcephaly and dysmorphic changes of the face, eyes, mouth and lips, heart, gastrointestinal tract, urinary tract, genitalia and skeleton. Recognition of a cancer-associated dysmorphic syndrome allows intensive cancer screening and genetic counseling. Therefore, it is recommended that every child with cancer should be examined by a clinical geneticist. Molecular diagnostics of germinal mutations may very effectively detect families at high risk of malignancy and help provide primary prevention. This work presents clinical syndromes with genetic background and cancer screening recommendations for 18 syndromes with increased cancer risk.

Enamel defects in the complete primary dentition of children born at term and preterm.

PURPOSE: This study's purpose was to compare the frequency of enamel defects (ED) in the complete primary dentition (CDD) of term children (TC) and preterm children (PTC) and to analyze neonatal factors associated with ED in PTC. METHODS: The study group was formed by 45 PTC, cared for at the Follow-up Clinic for Preterm Children of the Federal University of São Paulo, Brazil. The control group included 46 school-children born at term. RESULTS: ED was more frequent in PTC (87%) than in TC (44%; P<.05). All 34 PTC with tracheal intubation at birth presented ED, showing a strong association between both. The variable was not included in the regression model. To analyze neonatal factors associated with ED in PTC, a model of logistic regression was adjusted. Malnutrition at term-corrected age increased the risk of ED in PTC 7.8 times. Opacity (white/cream) and hypoplasia (missing enamel) were frequent types of ED in this series. PTC and TC presented with high ED frequencies. CONCLUSIONS: The frequencies of enamel defects were elevated in term and preterm children, but were higher in the latter. Tracheal intubation was strongly associated with enamel defects, and extrauterine growth restriction significantly increased the risk for enamel defects in preterm children.

Stunting Malnutrition Associated with Severe Tooth Decay in Cambodian Toddlers.

BACKGROUND: The persistently high prevalence of undernutrition in Cambodia, in particular stunting or chronic malnutrition, calls for innovative investigation into the risk factors that affect children's growth during critical phases of development. METHODS: Secondary data analysis was performed on a subgroup of children who were present at two time points within the Cambodian Health and Nutrition Monitoring Study (CAHENMS) and who were less than 24 months of age at the nominated baseline. Data consisted of parent interviews on sociodemographic characteristics and feeding practices, and clinical measures for anthropometric measures and dental status. Logistic regression modelling was used to examine the associations between severe dental caries (tooth decay)­as indicated by the Significant Caries Index­and the presence of new cases of stunting malnutrition at follow-up. RESULTS: There were 1595 children who met the inclusion criteria and 1307 (81.9%) were followed after one year. At baseline, 14.4% of the children had severe dental caries, 25.6% presented with stunted growth. 17.6% of the children transitioned from healthy status to a low height-for-age over the observation period. Children with severe dental caries had nearly double the risk (OR = 1.8; CI 1.0-3.0) of making that transition. CONCLUSION: Severe caries experience was associated with poorer childhood growth and, as such, could be an underinvestigated contributor to stunting.

Enamel defects and its relation to life course events in primary dentition of Brazilian children: a longitudinal study.

OBJECTIVE: To evaluate the cumulative incidence of enamel defects (ED) and its correlation with life course events such as malnutrition and pre- and postnatal infections, in a cohort of children of low socioeconomic status. METHODS: The children were registered at birth and examined from 12 to 36 months of age. At the baseline, 246 were examined and in the follow-up, 228. The teeth were examined under natural light and dried with gauze. ED was determined by the DDE index. RESULTS: Results show that gender was not significant. The cumulative incidence of ED at the last recall examination was 78.9%. The most prevalent type of defect was diffuse opacity, present on the gingival half of the buccal surface (p < 0.001). For logistic regression analysis maternal infections, intrauterine growth retardation (IUGR), malnutrition and postnatal infections were selected as predictor variables for the occurrence of enamel defects. CONCLUSIONS: The results indicate that life course events such as undernutrition and childhood infections during teeth development may be associated with enamel defects in socioeconomically underprivileged communities and may compromise the oral health-related quality of life.

Sleep disordered breathing in infants and children: a review of the literature.

The objective of this report was to review the etiology, diagnosis, and treatment of sleep disordered breathing (SDB) in children and infants. English peer-reviewed SDB literature identified by MEDLINE and a manual search conducted between 1999 and 2006 was selected. The keywords used for the search included: (1) children; (2) sleep disorder; (3) snoring; and (4) obstructive sleep apnea. A total of 153 manuscripts was identified. A delay in treatment of SDB children may be caused by several factors and may result in serious but generally reversible problems, including: (1) impaired growth; (2) neurocognitive and behavioral dysfunction; and (3) cardiorespiratory failure. Adenotonsillectomy is the treatment of choice, and continuous positive airway pressure may be an option for patients who are not candidates for surgery or who do not respond to surgery. Minimal information is available concerning the dental treatment of these disorders. With the devastating effects sleep disorders can have on children and their families, dentists must recognize obvious symptoms and refer these patients for management by physicians.