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Rett syndrome--a rare and often misdiagnosed syndrome: case report.

Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-year, 3-month-old white female with Rett syndrome and review of pertinent literature are presented. The previously reported oral/digital habits and oral manifestations of Rett syndrome are listed along with other unreported oral findings. Many of these oral manifestations are not unique to Rett syndrome. There is a likelihood that they may be related to trauma secondary to the excessive oral/digital habits, poor gait, and seizure activity.

Apraxias↗

The oral-facial geneticist: his training and role in dentistry.

There is a great need today for clinical geneticists who can diagnose hereditary malformation complexes and counsel afflicted patients and their families. The vast majority of these heritable syndromes have significant expression in the oral-craniofacial complex. This paper describes the minimal qualifications and training needed by postgraduate dentists to function as oral-facial geneticists. The oral-facial geneticist is defined as a human geneticist who has special interest and training in diseases of the oral-facial complex. In addition to patient care and consultation, persons with such training may make important contributions to teaching and research in cranio-facial growth and development.

Curriculum↗

Sago haemolysis: clinical features and microbiological studies.

Severe, acute and sometimes fatal intravascular haemolysis has occurred on several occasions in Papua New Guinea families after the ingestion of apparently 'stale' sago. Earlier cases had been recorded only from the Maprik area; however, we now report the occurrence of two similar outbreaks, involving a total of 14 persons, in the Western Province. Several bacteria and fungi were isolated and identified in a sample of suspect sago from one of the outbreaks. None of these, however, to our knowledge, has ever been incriminated as a cause of haemolysis, and the aetiological agent(s) and mechanism of haemolysis thus remain to be elucidated. No mycotoxins were detected in one sample available for analysis. It is suggested that the eating of sago stored for a long time be discouraged; and further that, if a meal of sago tastes abnormal, additional mouthfuls should not be eaten and the remaining portion should be sent for analysis or discarded.

Adolescent↗

[Congenital oral pits: report of a case].

Normal morphogenesis of oro-facial tissues includes a complete, step-by-step sequence of cell migration and of interaction between groups of cells; mechanisms responsible for dysmorphogenesis are, however, still unknown. Lips are frequent target structures for these malformations, a variety of which are congenital labial fistula. The present paper reviews current literature on the subject an submits a case history illustrating this alteration.

Adolescent↗