Pediatric Dentistry – 21:2, 1999 Abnormalities of dentin formation have been classified into two large categories: those that are primarily diseases of the dentin itself and those in which the dentin defect accompanies defects in other tissue systems. For example, the former category contains dentin dysplasia types I and II, dentinogenesis imperfecta types II and III and regional odontodysplasi...

Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We wil...

UNLABELLED A 51-year-old male with known osteogenesis imperfecta (OI) (type 1) presented with symptoms and signs of infective endocarditis. Transthoracic echocardiography showed chordal rupture and free mitral regurgitation, resulting in an emergency mitral valve repair. The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bo...

BACKGROUND Osteogenesis imperfecta is a genetic disorder of connective tissue causing mostly left-sided heart valves and aortic root pathologies, but a coronary artery involvement reflecting an increased sensitivity to cardiovascular risk factors is also suspected in this patient population. CASE PRESENTATION We report a 38-year-old patient with an osteogenesis imperfecta and a typical presen...

Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. ...

The mortality rate in cardiac surgery patients with heritable generalized connective tissue disorders, such as Marfan s syndrome and osteogenesis imperfecta, is high due to tissue friability. We describe a successful open heart surgery for repair of aortic regurgitation in a woman with osteogenesis imperfecta (OI). Although tissue friability caused no problems during surgery in this case, it sh...

A 20-yr-old primigravida at 38 weeks gestation with premature rupture of membranes and evidence of fetal distress required urgent Caesarean section. The diagnosis of osteogenesis imperfecta had been made 4 days earlier. The patient refused a regional anaesthetic. Difficulties in the administration of general anaesthesia to patients with osteogenesis imperfecta were recognized and managed accord...

A 21 year old man with severe osteogenesis imperfecta developed classic right maxillary trigeminal neuralgia. Brain imaging showed pronounced basilar invagination, which was probably responsible for the pain through distortion of the trigeminal sensory root secondary to displacement of the brainstem. Osteogenesis imperfecta may be added to Paget's disease as a potential cause of symptomatic tri...

NUMB is a multifunctional protein implicated to function in self-renewal and differentiation of progenitors in several tissues. To characterize the transcripts and to analyze the expression pattern of NUMB in odontogenesis, we isolated 2 full-length clones for NUMB from mouse dental pulp mRNA. One novel sequence contained 200 bp insertion in the phosphotyrosine binding domain (PTB). Confocal mi...

normal pulp cavities exclude dentinogenesis imperfecta". In the dentine abnormalities that may be associated with osteogenesis imperfecta, the pulp chambers and root canals are either progessively obliterated by the continuous deposition of highly disorganised dentine, or the pulp chambers are larger than normal by a failure of deposition. It is not possible to ascertain whether or not the pulp...