Mucopolysaccharidoses type IV A (Morquio syndrome): a case series of three siblings

Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides). Despite the well-documented oral and dental findings of MPS type IV, there is not much literature documented about the incidence of this disorder among siblings in the same family. This report outlines the clinical and radiographic findings found in three siblings with Morquio syndrome.     

Dental care access among individuals with Down syndrome in France

The aim of this study was to compare levels of dental care utilization, receipt of dental services, and oral hygiene habits between a sample of individuals with Down syndrome (DS) and their siblings. Data were collected by means of a recently validated, French-language, questionnaire measured of oral health and its related problems for individuals with DS. A cross-sectional survey was undertaken of parents of children with DS attending a national meeting for families and carers of individuals with DS in France. Older individuals with DS were significantly more likely to visit a dentist regularly than their older non-DS siblings, but the group with DS was significantly less likely to have received any dental treatment. The group with DS was significantly more likely to have difficulty finding both medical and dental services. Parents were nearly twice as likely to report problems finding dental services for their child with DS as they were medical services. In a multiple logistic regression analysis within the DS group, it was found that older age, regular speech therapy and ophthalmology consultations, and reports of no difficulty finding a dentist were independently associated with increased odds for regular dental consultations. Analysis of the findings suggests that the parents of children with DS in France frequently encounter problems of access to oral health care and that individuals with DS are less likely to receive dental services than are their non-DS siblings.     

Quintuplets with clefts: follow-up at ten years of age.

A set of quintuplets, three of which were born with various degrees of oral clefting, were followed up to the age of 10 years. Study models, as well as panoramic and intraoral roentgenograms were collected at ages 5 and 10 years. Cephalometric roentgenograms were added at the age of 10 years. Analysis of the growth charts for height and weight indicated normal somatic development, save for a persistent, albeit diminishing, lag for the two most severely affected siblings. The latter also demonstrated a more vertical craniofacial growth pattern. The dental arch dimensions were within normal range, except for the maxillary and mandibular widths in the two more affected siblings, who also exhibited a delay of one or two stages of dental development in an intersibling comparison. These findings indicate that in the more severely affected siblings, there was only partial growth catch-up at the age of 10 years.     

Opalescent dentine in two affected siblings

This report describes the dental findings and management of siblings in a family in which three generations had been affected by osteogenesis imperfecta Type IV with opalescent dentine. Hereditary opalescent dentine, or opalescent teeth, is a pathologic dental condition characterised by a disturbance of dentine formation that occurs concurrently with osteogenesis imperfecta. Osteogenesis imperfecta is a genetically heterogenous group of systemic disorders of the connective tissue. The two siblings affected with opalescent dentine were treated under general anaesthesia, and included stainless steel crowns, extractions, and strip crowns on primary teeth. These reports highlight that appropriate treatment of the dentition of young patients with opalescent dentine should be carried out early in the primary dentition, and that this initial treatment can have long-term benefits in the mixed and permanent dentitions.     

Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review

BACKGROUND: Ehlers-Danlos syndrome (EDS) designates a heterogeneous group of connective tissue disorders characterized by skin elasticity, tissue fragility, and chronic joint pain. Dental findings have been reported with some types of EDS. This case report describes the periodontal findings in a patient with a previously undiagnosed EDS type VIII. METHODS: Diagnostic aids utilized included microbial testing, histological examination, gingival crevicular fluid (GCF) analysis for the levels of C-telopeptide pyridinoline cross-links (ICTP), and genetic counseling. Periodontal treatment consisted of mechanical debridement and adjunctive antibiotic therapy. RESULTS: Genetic counseling and clinical presentation confirmed the diagnosis of EDS type VIII. Periodontal treatment led to marked clinical improvements and GCF levels of the bone resorptive marker ICTP were significantly reduced. The patient and her siblings are currently pursuing appropriate medical care and genetic counseling. CONCLUSION: Periodontal involvement may lead to the diagnosis of an underlying systemic condition. Identification of suspected etiological factors of periodontal disease may prove critical for the general well-being of some patients.     

Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia.

A patient with oromandibular-limb syndrome, Type II C, hypoglossia-hypodactylomelia, is documented and the pertinent literature critically reviewed. In addition to limb and tongue anomalies the patient had hypognathia, microstomia, absent mandicular permanent incisors, and enamel dysplasia. Her unrelated parents and siblings are normal. Past medical history for drug exposure to the mother during pregnancy was negative.     

Generalized juvenile periodontitis: report of a familial case followed for 5 years

The case of a family, followed for 5 years and showing an exceptionally high prevalence of Generalized Juvenile Periodontitis (GJP), is presented. Two siblings were affected by a severe form of GJP meanwhile the dycorial twin of one was periodontally healthy. Both the affected siblings showed infection by Actinobacillus actinomycetemcomitans (Aa), but only one presented a reduced chemotaxis of the peripheral PMNs. The dycorial twin consistently displayed a freedom from Aa and a reduction in the peripheral PMNs chemotaxis. The extraction of the compromised teeth in the two affected siblings has been followed by colonization of new sites by Aa; only repeated administration of systemic tetracyclines seems to protect the subjects from colonization of other sites. These findings may contribute to the understanding of the etiology, pathogenesis, and therapy of juvenile periodontitis.     

Hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefevre syndrome): report of three cases, two occurring in siblings.

Three cases of palmar-plantar hyperkeratosis with periodontosis, two cases of which occurred in siblings, are reported. The parents were unaffected, and parental consanguinity was present in all three cases. All essential features of the syndrome were present in these cases.     

Dental findings in three siblings with Morquio's syndrome

Three siblings with Morquio's syndrome are described. Cultured fibroblasts from the youngest sibling demonstrated a total absence of N-acethylgalactosamine-6-sulphate-sulphatase whereas β–galactocidase activity was normal, thus verifying the diagnosis of MPS-IV A. Dental features such as pointed cusps, spade-shaped incisors, thin enamel and pitted buccal surfaces were observed in all three children. Furthermore, in all three siblings the TMJ was affected with severe resorption of the head of the condyle.
Histological examination of exfoliated primary molars showed a band of increased porosity following the striae of Retzius in the outer part of the enamel. These developmental disturbances were occasionally associated with minor localized defects in the enamel surface.
The importance of close monitoring of dental development and regular dental care in order to prevent attrition of the teeth, loss of vertical face height and subsequent risk of TMJ dysfunction is emphasized.     

Congenital monostotic fibrous dysplasia--a new possibly autosomal recessive disorder.

Two siblings, a 3-month-old white male infant and a 12-day-old female infant, had an anterior mandibular bony lesion that, in both cases, had been present at birth. After evaluation of clinical, physical, radiographic, laboratory, and histologic findings, a diagnosis of congenital monostotic fibrous dysplasia was made. Thorough review of the literature on fibrous dysplasia yielded no similar cases. The two cases presented appear to be the first reported examples of congenital monostotic fibrous dysplasia in siblings. The parents said there was no consanguinity. The possibility of a new autosomal-recessive disorder is likely.     

Toothbrushing frequency in relation to family size and bedtimes in English schoolchildren

Data from a survey of 3727 14-yr-old children from 31 secondary schools in England in 1984-85 were analysed to obtain information about toothbrushing frequency, social group, number of siblings, and time of going to bed. Subjects completed a questionnaire, anonymously, in class. One third of respondents cleaned their teeth once or less per day. Toothbrushing frequency was found to increase significantly with improvement in social status in males (P less than 0.05), while a similar non-significant trend was found in females. Toothbrushing frequency decreased significantly as the number of siblings increased (P less than 0.01) and a trend towards decreasing brushing frequency as bedtimes became later was observed. These findings indicate that family factors do influence toothbrushing practice in adolescents. These factors need to be understood more thoroughly if toothbrushing habits in school-age children are to be improved.     

The effects of perennial allergic rhinitis on dental and skeletal development: a comparison of sibling pairs

This study analyzed the effect of perennial allergic rhinitis on dental and facial skeletal characteristics. Twenty-five allergic children who were apparent mouth breathers, their 25 siblings who did not have the disease and were apparent nose breathers, and 14 nasal breathing control subjects were examined medically, dentally, and cephalometrically. Compared with their siblings, the allergic subjects had more nasal mucosal edema, a higher proportion of eosinophils in their nasal secretions, and greater nasal power. The allergic subjects were characterized by deeper palatal height, retroclined mandibular incisors, increased total anterior facial height and lower facial height, a larger gonial angle, and greater SN, palatal, and occlusal planes to mandibular plane angles. All of these measures except gonial angle were also significantly different between the allergic children and the nonconsanguineous controls. Also, the allergic subjects compared with controls had smaller SNB and SN-pogonion angles and an increased overjet. Both allergic and nonallergic sibling groups showed larger mean adenoid size on radiographs than controls. For most variables the nonallergic siblings fell between the allergic children and the control subjects. Overall, the allergic children had longer, more retrusive faces than controls. This retrusive characteristic was present in nonallergic siblings and cannot be ascribed to the apparent breathing mode at the time of the study. These results confirm earlier reports that allergic rhinitis may be associated with altered facial growth. Controlled longitudinal studies to analyze a possible cause-and-effect relationship and the effects of medical and surgical treatments should be undertaken.     

Periodontal treatment of two siblings with juvenile hyaline fibromatosis

BACKGROUND AND AIM: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive disease that presents with multiple subcutaneous nodular tumours, gingival fibromatosis, flexion contractures of the joint and hyaline material accumulation in extracellular area. Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified. In this case report, periodontal status, treatment and follow-up together with histopathologic evaluation of gingival tissue specimens and mutation screening of two JHF cases are presented. CASE REPORTS: A 10-year-old female (case 1) and her 3-year-old brother (case 2) were first examined in our department with a complaint of gingival hyperplasia in 1991. Symptoms of the disease were detected in two of four siblings in the family. Several gingivectomy operations were carried out over 11 years with hygiene motivation and initial phase therapy. After the last gingivectomy operation in 2002, the patients were reviewed frequently. RESULTS AND CONCLUSIONS: Although there was linear marginal gingival inflammation, no remarkable enlargement was noted at last appointment. Histopathological findings showed increased amounts of subepithelial nodular connective tissue, thinned epithelial mucosa, separated inter-cellular bridges and decreased numbers of connective tissue cells in gingival tissue samples. Electron microscopic examinations supported the histopathological findings. Mutation screening of CMG2 demonstrated that the siblings were homozygous for a pathogenic missense mutation, V386F. Our clinical findings demonstrate that gingivectomy is useful and frequent periodontal visits are important for maintaining oral hygiene and decreasing growth rate of gingiva in JHF.     

Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation

INTRODUCTION: Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2. CCD is also accompanied by characteristic dental abnormalities, e.g. supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal abnormalities are reported but those of dental abnormalities are obscure. To clarify this point, a precise examination of the dental features of CCD siblings having identical mutation was performed. DESIGN: Gene mutational analysis of three Japanese CCD siblings and their father was performed. Skeletal and dental characteristics were examined by the inquiry and radiographs. RESULTS: Three siblings uniformly showed patent fontanelles and short stature. They and their father had a novel missense mutation in the RUNT-domain (P210S) of RUNX2. The siblings were completely discordant for the dental characteristics with the position and number of supernumerary teeth being completely different. The youngest, a 12-year-old boy, had six supernumerary teeth, which appeared symmetrically around the maxillary canines and mandibular premolars. The second, a 15-year-old girl, had four supernumerary teeth which appeared around the mandibular incisors. The oldest, a 17-year-old boy, had 11 supernumerary teeth, which were symmetrically around the mandibular lateral dentition and asymmetrically around the maxillary incisors and premolars. CONCLUSION: The present study suggests the involvement of non-genetic or epigenetic regulation in supernumerary tooth formation in CCD.     

Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings

Schwartz‐Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz‐JBmpel syndrome The case histories of two siblings diagnosed with this disorder are described as well as their dental care.     

The role of MSX1 in human tooth agenesis

MSX1 has a critical role in craniofacial development, as indicated by expression assays and transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three families with autosomal-dominant tooth agenesis. To test the hypothesis that MSX1 mutations are a common cause of congenital tooth agenesis, we screened 92 affected individuals, representing 82 nuclear families, for mutations, using single-strand conformation analysis. A Met61Lys substitution was found in two siblings from a large family with autosomal-dominant tooth agenesis. Complete concordance of the mutation with tooth agenesis was observed in the extended family. The siblings have a pattern of severe tooth agenesis similar that in to previous reports, suggesting that mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis. Supporting this theory, no mutations were found in more common cases of incisor or premolar agenesis, indicating that these have a different etiology.     

Dentinogenesis imperfecta associated with short stature,hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.     

Tumoral calcinosis with unusual dental radiographic findings

Tumor calcinosis is a rare disease of unknown cause, manifesting itself as abnormal calcifications of cystic masses in the fibrous tissues adjacent to, but not involving, the joint spaces. A family with multiple siblings affected by tumoral calcinosis and found to have unusual dental radiographic findings consistent with varying degrees of expression of dentinal dysplasia is described.     

Dental manifestations of autoimmune hypoparathyroidism

The histopathologic changes in three permanent molars from two siblings with autoimmune hypoparathyroidism as part of candida endocrinopathy syndrome are described. These teeth developed after the diagnosis of hypoparathyroidism and while each subject was receiving vitamin D and calcium supplementation. The pathogenesis of the dental changes is unknown, but it is possible that parathormone may directly influence tooth development independent of its role in calcium and phosphorous homeostasis.     

Primary double teeth. A retrospective clinical study of their morphological characteristics and associated anomalies

Aim . To investigate the relationship between morphology and position of double teeth, and the occurrence of other dental anomalies in the same subjects and in their siblings.
Sample of children and methods . Fifty-three double teeth in a group of 50 Spanish children were included in the study. All of these children were examined clinically and had radiographs and photographs taken at the time of examination. Twenty-two of the children had a total of 30 siblings who were also examined for the presence of anomalies.
Results . Of the 50 subjects, 47 had one and three subjects had two double teeth. Statistically there were no significant differences in occurrence between boys and girls, left and right sides or between maxilla and mandible. Four morphological types were identified: type I, bifid crown–single root; type II, large crown–large root; type III, two fused crowns–single root; type IV, two fused crowns–two fused roots. Type I was seen only in the maxilla and types II and III only in the mandible. Type IV was seen mostly in the maxilla. More than half of the cases showed associated anomalies in the permanent dentition and anomalies of number or shape were also present in six of the siblings.
Conclusion . It is suggested that both double teeth and other anomalies in the same children or in their siblings may be manifestations of a primary abnormality in the distribution of dental material.