Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings

Abstract

Osteogenesis imperfecta (OI) is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. The clinical and radiological features of OI manifest in different age groups, although the disease is congenital in nature. Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed. In severe cases, respiratory distress and death have been reported. The most important oral finding in OI is the presence of yellowish-brown-coloured brittle teeth characteristic of dentinogenesis imperfecta. Genetic factors play a very important role in the pathogenesis of OI either as a dominant or recessive factor. When a child has OI, there is a 25% chance of the sibling to have the same disorder. We report two cases of OI in siblings born to parents with a history of consanguineous marriage. The clinical and radiological features of the two cases are described in detail.

Dentinogenesis imperfecta: An update

“…The incidence of the disease, according to the literature, varies between 1/20,000 22,23 to 6/10,000 11 newborns while the prevalence is around 4-10/100,000 newborns 11 . The most common clinical sign of the disease is reduced bone mass and frequent bone fractures.…”

“…Hyperelastic joints, blue sclera, growth retardation and short stature, kyphoscoliosis, early hearing loss are often signs of the disease. Also craniofacial disorders such as macrocephaly, mid-face hypoplasia and subsequent skeletal class III malloclusion and unilateral or/and bilateral crossbite as well as Dentinogenesis Imperfecta are quite common 11,[21][22][23] . More precisely, Dentinogenesis Imperfecta occurs in over 50% of patients with Osteogenesis Imperfecta 11 .…”

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“…An earlier case report study on OI Type IV in siblings had not only similarities to this case report study in that both siblings similarly showed growth retardation and pathologic fractures, but this case also included dental findings and a consanguineous parent. However, in this trial, logistical challenges prevented the two patients from completing their treatment [5]. Significant intra-and interfamilial variation characterizes OI type IV, a hereditary illness.…”

Combined Treatment with Laser Sintering and Zirconium: A Case Report of Dentinogenesis Imperfecta

“…Radiographically, teeth affected by DI show cervical constriction, bulbous crowns, short roots, short pulp chambers, and obliterated canals [10]. Adult patients with OI frequently exhibit class III malocclusions, anterior or posterior cross-bite, posterior open-bite, and vertical height loss [1, 3, 11]. …”