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Results for “MOUTH ABNORMALITIES”

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PubMed1976

[Spinocerebellar ataxia with monilethrix, typical facial features, and dental anomalies].

The authors present a form of heredodegenerative spinocerebellar ataxia with concomitant involvement of ectodermal structures, different from other variants. The disease was characterized by spinocerebellar ataxia (the complete form); curly, thin, short and dense hair, mikroskopically monilethrix; a characteristic face (hypertelorism, flattened and wide base of the nose, prominent nostrils, large mouth, thick lips); and abnormal teeth which were reduced in number and had gaps inbetween. The psycho intellectual development and the voice of the patient were normal. The first neurological symptomes were observed at the age of 3 years and progressively developed until now at the age of 6 years. Data necessary to establish the mode of hereditary transmission were not available.

Adolescent↗
PubMed1981

Scanning electron microscopy, autolysis, and irradiation as techniques for studying small intestinal morphology.

Examination of autolysed control mouse small intestine using scanning electron microscopy has revealed details of the connective tissue components of the mucosa. The cores of the villi are seen collapsed across the intervillous basin. Crypts of Lieberkuhn are seen as tubular channels stretching down from the intervillous basin. Sometimes the crypts are split in two by a connective tissue septum. The mouths of the crypts of Lieberkuhn are, in general, arranged in double rows between the single rows of villi. The ratio of number of crypts to numbers of villi was calculated as 5.01:1. This is close to the figure of 4.53:1, as quoted by Smith & Jarvis (1980) who used differential interference contrast microscopy to investigate the crypt to villus ratio. After radiation, the severe drop in the number of crypt mouths can be clearly seen by the combination of autolysis and scanning electron microscopy: the rows of crypt mouths between the villi have been lost, and many crypt mouths have been occluded by stromal tissue. The arrangement of the crypt mouths and the observation of mucosal abnormalities after irradiation have led to the postulation that cells leaving the crypt mouths move in a spiral manner towards and then up the villous surface: this postulated movement might imply an asymmetry in some properties of enterocytes. The use of scanning electron microscopy in conjugation with autolysis and irradiation has thus forced a critical re-examination of the relationships between crypts and villi.

Animals↗
PubMed1992

Trisomy 18: behavioral and structural abnormalities. An ultrasonographic case study.

A behavioral and structural analysis using ultrasound of a fetus suffering from Edwards syndrome is described. A number of structural anomalies were observed: the classic hand deformity, extended legs, diamond-shaped head, open mouth and a severe cardiac abnormality. A number of distinctive behavior patterns were observed: vertical eye movements, longitudinal rotation of the trunk, rotation of hands, tremor of extremities and pulsatile body movements, which are not usually seen in the normal fetus. The use of behavioral indicators in the diagnosis of abnormalities is discussed. We conclude that the analysis of behavior may make a significant contribution to the ultrasonographic diagnosis of handicap.

Journal Article↗