ABSTRACT
X-linked hypophosphatemic rickets (XLH) is a rare condition affecting bone metabolism. It has characteristic dental features such as poorly mineralised dentine, spontaneous abscess formation in the absence of caries and taurodontism. There are limited published data about patients with this condition undergoing orthodontic treatment, and there is no clear guideline on the suitability of orthodontic treatment in this cohort. We present a case report of a patient with XLH with a confirmed PHEX gene mutation undergoing orthodontic treatment and clinical recommendations to support treatment.
Subject(s)
Familial Hypophosphatemic Rickets , Familial Hypophosphatemic Rickets/complications , Familial Hypophosphatemic Rickets/genetics , Familial Hypophosphatemic Rickets/therapy , Humans , Mutation , PHEX Phosphate Regulating Neutral Endopeptidase/genetics , Rare DiseasesABSTRACT
INTRODUCTION: SHORT syndrome is a rare autosomal dominant condition described by its acronym of short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger abnormality, and teething delay. Individuals have a distinct progeroid craniofacial appearance with a triangular face, frontal bossing, hypoplastic or thin alae nasi, large low-set ears, and mandibular retrognathia. OBJECTIVES: To systematically appraise the literature and update the clinical phenotype with emphasis on the dental condition. DESIGN: A systematic literature search was carried out to update the clinical phenotype, identifying reports of individuals with SHORT syndrome published after August 2015. The same search strategy but not limited to publication date was carried out to identify reports of the dental phenotype. Two independent reviewers screened 1937 articles with 55 articles identified for full-text review. RESULTS: Nineteen individuals from 11 families were identified. Facial dysmorphism including ocular depression, triangular shaped face, frontal bossing, large low-set ears, and micrognathia were the most consistent features followed by lipodystrophy, insulin resistance, and intrauterine growth restriction. Teething delay, microdontia, hypodontia, and enamel hypoplasia have all been reported. CONCLUSION: Features that comprise the SHORT acronym do not accurately or completely describe the clinical phenotype. The craniofacial appearance is one of the most consistent features. Lipodystrophy and insulin resistance may also be considered cardinal features. After teething delay, enamel hypoplasia and microdontia are the most common dental manifestations. We present recommendations for the dental and orthodontic/orthognathic management of individuals with SHORT syndrome.
Subject(s)
Dental Enamel Hypoplasia , Growth Disorders , Hypercalcemia , Metabolic Diseases , Nephrocalcinosis , Tooth Abnormalities , Growth Disorders/diagnosis , Humans , Hypercalcemia/diagnosis , Insulin Resistance , Lipodystrophy , Metabolic Diseases/diagnosis , Nephrocalcinosis/diagnosis , PhenotypeABSTRACT
Orthognathic surgery offers a predictable treatment option for patients with skeletal discrepancies and corresponding dental malocclusions. In cases where surgery is not advised due to significant medical co-morbidity, the orthodontist must approach the treatment using different mechanical modalities. Orthodontic mini-implants can be a valuable adjunct in these cases. We describe a case where a palatal mini-implant was used during orthodontic treatment in a patient with a complex capillary malformation, which precluded surgical correction.