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[Cranio-facial and dental manifestations of erythrocyte abnormalities].

Various types of erythrocyte lesions are observed: hemoglobin anomalies, enzyme disorders, membrane anomalies. This leads to a reduction in the duration of life of the erythrocytes or to abnormal erythropoiesis with, in both cases, reactive development of hematopoietic tissue. This extension of the medullary field in bones results in alterations that are initially visible on radiography, and then, in the severe forms, in the development of mainly craniofacial and dental dysmorphia with, in some cases, additional secondary enamel and dentine anomalies of the hemolytic origin. These anomalies were present to varying degrees in a series of patients in whom cranial radiographies were performed. In two cases there was a fortuitous association of dental anomalies of the melanodontia and opalescent dentine types. These patients may raise particular problems during dental care and treatment: risk of infection, respect of drug contraindications, latent cardiac insufficiency.

Adult↗

[The problems in studying the prevalence and the organization of the prevention of maxillodental anomalies in children].

Methodological aspects of studies of the prevalence and organization of prevention of maxillodental abnormalities in children are discussed, effects of a number of factors on the incidence of such abnormalities shown. The author emphasizes that prevention of abnormalities should start in early age and be based on an individual approach to a child. A conclusion is made on the necessity of development of a unified program of epidemiological study of abnormalities in the country.

Adolescent↗

Accessory jaw and mouth: report of case.

A rare case of teratoma, presented with a double mandible and double mouth, mucous secretions and two teeth erupting in the accessory mouth. There are numerous supernumerary teeth in the main body of the mandible, and geminated primary teeth in the mandibular arch. There was a history of cleft palate.

Child, Preschool↗

[Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].

In the majority of Charcot-Marie-Tooth disease type 1A (CMT1A) patients, the peripheral myelin protein 22 (PMP-22) gene maps within 1.5 megabase duplication on chromosome 17p11.2-12. The PMP-22 gene dosage is believed to be a major determining factor in the molecular pathology of CMT1A. Median nerve conduction velocities were below 35 m/sec in 17 CMT1A patients examined. Northern blot analysis showed that the mean relative ratio of PMP-22 mRNA levels in biopsied nerves of 5 patients with CMT1A is significantly higher than that in disease controls. Immunohistochemical analysis demonstrated that Schwann cell cytoplasm including onion bulbs as well as the myelin sheath was positive for PMP-22 in some patients with CMT1A, while PMP-22 was expressed only on compact portion of the myelin sheath in non-CMT1A patients and normal subjects. A minority of CMT1A are known to carry dominant and recessive point mutations in PMP-22. Some patients with Dejerine-Sottas syndrome (DSS) also have dominant and recessive point mutations in PMP-22. Instead of being two completely distinct disease entities, DSS and CMT1A form a spectrum of inherited PMP-22 related neuropathies, including hereditary neuropathy with liability to pressure palsies which carries a deletion of the PMP-22 gene.

Animals↗