Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome

Massimo Petruzzi,Valeria Capra,Fedora Della Vella,Alessandro Stella,Maria Contaldo

doi:10.3390/ijerph18178957

Abstract

Aim: Aim of this case report is to describe oro-facial abnormalities in a patient affected by Helsmoortel-Van der Aa syndrome, a rare autism syndrome, with not well described dental and cranial malformations. Case Report: Helsmoortel-Van der Aa Syndrome is a rare autosomal genetic syndrome causing mental impairment and autism, craniofacial dysmorphism, chest deformity and multiple organs dysfunction. Oro-facial involvement in Helsmoortel-Van der Aa syndrome has not been thoroughly described yet. The present article reports a case of a 9 years old male patient affected by Helsmoortel-Van der Aa Syndrome, presenting with oral breathing typical facies, high arched palate, II class and dental crowding. The patient teething was adequate to his age. The enamel of incisors and molars showed demineralization areas and dark spots, a clinical picture consistent with molar incisor hypomineralization syndrome. These hypo-mineralized areas are more susceptible to cavities, in fact the patient’s 4.6 tooth was decayed. The child was brought to our attention due to a mucocele on the lower lip, confirmed by histopathologic examination. Available data on oro-dental manifestation of this syndrome are rather poor and inconsistent, also due to the rarity of the disease. The finding of enamel abnormalities in the presented case could suggest a potential genetic etiopathogenesis linked to the same genes causing Helsmoortel-Van der Aa syndrome.

Highlights

Helsmoortel-Van der Aa syndrome (HVDAS), known as mental retardation autosomal dominant 28 (MRD28) or ADNP-related intellectual disability and autism spectrum disorder (ADNP-related ID/ASD), is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of activity-dependent neuroprotector homebox gene (ADNP gene), a human transcription factor, essential for brain development
We present a case of pediatric HVDAS patient highlighting the syndromic oro-dental features comparing them with the ones previously reported in the literature, in order to spread the awareness of this condition, consider a possible link between genetic mutations and dental abnormalities and promote oral health in these patients
Patients affected by ADNP syndrome like HVDAS always represent a clinical challenge, first to get a proper diagnosis and later to receive proper care in any medical field

Summary

Introduction

Helsmoortel-Van der Aa syndrome (HVDAS), known as mental retardation autosomal dominant 28 (MRD28) or ADNP-related intellectual disability and autism spectrum disorder (ADNP-related ID/ASD), is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of activity-dependent neuroprotector homebox gene (ADNP gene), a human transcription factor, essential for brain development. The prevalence of ADNP syndrome is approximately (1–2)/100,000 individuals [1]. The syndrome represents 0.17% of the autism spectrum disorder cases. Helsmoortel et al described for the first time in 2014 the syndrome, detailing the clinical characteristics, intellectual disability and facial dysmorphisms of 10 patients with HVDAS [1]. The syndrome is characterized by a clinical set of neurobehavioral anomalies, including intellectual disability and autism spectrum disorder. Hand and feet abnormalities, nail abnormalities, widely spaced nipples, pectus excavatum, pectus carinatum, or combined excavatum/carinatum deformity, cardiac defects, short stature, hormonal deficiencies, gastrointestinal, visual, and musculoskeletal problems are reported with variable percentages of prevalence

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