Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case

Abstract

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

Oculo-dento-digital dysplasia: a systematic analysis of published dental literature

“… Type of study Journal Author, year No. of patients, age, gender Oral manifestation Confirmed Genetic analysis Treatment provided 1 Case report BMJ Case Reports Jensen, E. D. [ 8 ] (2021) 1 patient 3 years Female Extensive enamel loss (hypomineralization), enamel fractures in primary teeth Mutation in one copy of GJA1 gene (+) SSCs on primary first molars, sealants on second primary molars 2 Case report and literature review Annals of Clinical and Laboratory Science Choi, J. et al [ 21 ] (2018) 1 patient 5 years Male Primary dentition: multiple dental caries Permanent dentition: Generalized enamel hypoplasia Missense mutation in GJA1 (+) Restorative work like full crowns on primary teeth 3 Case report Iranian Journal of Child Neurology Owlia, F. et al [ 14 ] (2017) 1 patient 5 years Male Maxillary deficiency, premature primary tooth loss (−) (−) 4 Case report International Journal of Prosthodontics Hadjichristou, C. et al [ 22 ] (2017) 1 patient 25 years Female Narrow maxilla, microdontia, spaced dentition, curved root morphology, multiple periapical abscesses, pulp stones, distally inclined condyles Missense mutation in GJA1 (+) Definitive metal-ceramic, full-coverage restoration in maxilla and mandible 5 Original article Oral Diseases Porntaveetus, T. et al [ 23 ] (2017) 1 patient 2.6 years Male Severe deterioration of teeth due to hypoplasia Mutation in GJA1 (+) Extraction of maxillary incisors, SSCs on all other erupted teeth with or without pulpectomy 6 Case report Journal of American Academy of Physician Assistants Mills, J. K. et al [ 15 ] ...…”

“…Enamel hypoplasia, hypomineralization, microdontia, pulp stones, curved roots, taurodontism, discolored teeth, tooth loss with or without caries, and peri-apical abscess are common findings in ODDD patients [ 7 , 8 , 15 – 19 , 21 – 23 , 25 – 28 ]. Other rare findings, i.e., cleft lip and palate [ 20 , 24 ] short mandibular ramus and body, absent frontal sinus [ 7 ], distally inclined condyles [ 22 ], and hypoplastic maxilla [ 14 , 17 , 22 ] may also be present.…”

“…Extraction of grossly carious teeth, deep fissure sealants, early restoration of dental caries, prevention of tooth wear with stainless steel crowns (SSCs) in posterior teeth with or without pulpectomy was carried out in studies [ 8 , 21 , 23 ].…”

“…It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million [ 2 ]. ODDD has high penetrance and its phenotypic expression is variable [ 5 , 6 ], ODDD has typical features (Table 1 ) of syndactyly [ 3 ], digital camptodactyly [ 7 ], ophthalmic [ 8 ], nasal [ 3 ], and dental abnormalities [ 9 ].…”

“…• Digits camptodactyly [ 7 ]. • Microphthalmia, microcornea, hypo/hypertelorism with short palpebral fissures [ 8 ]. • A depressed nose bridge, hypoplastic and anteverted nares [ 3 ].…”