Osteogenesis Imperfecta Congenita in Dizygotic Twins

Zeitoun, Moustafa M.; Ibrahim, A. H.; Kassem, Ahmed M.

doi:10.1136/adc.38.199.289

Cited by 12 publications

(4 citation statements)

References 5 publications

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“…There are a large number of reports of patients with 01 with features similar to those in this group, all of which point towards autosomal recessive inheritance. These include those of Hein (1928), Kaplan and Baldino (1953), Rohwedder (1953), Goldfarb and Ford (1954), Adaita (1957), Lievre (1959, Obs. 23), Awwaad and Reda (1960), Smars (1961, sibships 94 and 96), Zeitoun et al (1963), Maloney (1969), Horan and Beighton (1975), and Tsuruta and Sugiura (1977). Parental consanguinity was present in pedigrees reported by Hein (1928), Kaplan and Baldino (1953), Rohwedder (1953), Lievre (1959), Zeitoun et al (1963, Maloney (1969), and Tsuruta and Sugiura (1977).…”

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity in osteogenesis imperfecta.

Sillence¹,

Senn²,

Danks³

1979

Journal of Medical Genetics

1,982

1,229

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Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity in osteogenesis imperfecta.

Sillence¹,

Senn²,

Danks³

1979

Journal of Medical Genetics

1,982

1,229

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“…Description of OI in medical literature dates back to 1678 [6]. The varying range of incidence has been reported from 1 : 10000 to 1 : 20000 births [7].…”

Section: Discussionmentioning

confidence: 99%

“…Osteogenesis imperfecta (OI), also known as “brittle bone disease”, is a heterogeneous group of genetic connective tissue-associated disorders [ 5 ]. Description of OI in medical literature dates back to 1678 [ 6 ]. The varying range of incidence has been reported from 1 : 10000 to 1 : 20000 births [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings

Shetty

Dsouza

Babu

et al. 2011

Case Reports in Dentistry

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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.

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“…However, several investigators record kindreds with more than one affected sib born to presumed normal parents, suggesting autosomal recessive inheritance [Sillence, Senn, and Danks, 1979;Shapiro et al, 1982;Goldfarb and Ford, 1954;Awwaad and Reda, 1960;Zeitoun, Ibrahim, and Kassem, 1963;Chawla, 1964;Danks, 1975;Remigio and Grinvalsky, 1970;Wilson, 1974;McKusick, 19611. We are aware of only four kindreds with dominantly inherited 01 in which a stillborn infant with fractures, or a newborn with fractures and death in infancy, has been noted [Velley, 1974;Heyes, Blattner, and Robinson, 1960;Bierring, 1933;Keats and Anast, 19601.…”

Section: Discussionmentioning

confidence: 99%

Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth

et al. 1982

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Radiologic evaluation of the skeleton and scanning electron microscopic studies of the teeth were performed on an infant boy with a lethal osteogenesis imperfecta (OI) syndrome who died at 10 mo of pneumonia. The skeletal findings included ribs that were focally expanded by fracture calluses, flat vertebral bodies, and wide limb bones. On fractured tooth surfaces, the enamel and dentin were normal as was the dentin calcification front. Although microscopic abnormalities have been noted in teeth from previously reported infants with lethal OI, a few studies also report infants with normal teeth. These differences in dental findings may indicate heterogeneity in OI lethal in infancy. Results of our study indicate that, until the primary biochemical defects in the OI syndromes are elucidated, examination of teeth from other infants with lethal OI and detailed evaluation of other clinical and skeletal features will aid in delineating heterogeneity and variation in expression in lethal OI.

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Osteogenesis Imperfecta Congenita in Dizygotic Twins

Cited by 12 publications

References 5 publications

Genetic heterogeneity in osteogenesis imperfecta.

Genetic heterogeneity in osteogenesis imperfecta.

Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings

Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth

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