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Results for “Palate Abnormalities”

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PubMed1977

Teratogenic activity and metabolism of primidone in the mouse.

Primidone, 25, 50, 100, and 150 mg/kg, was administered orally to mice of the I.C.I. strain from days 6-16 of pregnancy. The fetuses were removed by caesarian section on day 19 and examined by dissection and alizarin staining for gross structural and skeletal defects. The most common abnormalities found were palatal defects with full-length or submucosal clefts. In the controls--25, 50, 100, and 150 mg/kg groups--the incidence of palatal defects was 0/85, 16/84, 18/117, 19/102, and 17/92 fetuses, respectively. Essentially no other major or minor drug-related abnormalities were found. The metabolism of primidone in the pregnant and nonpregnant mouse was also studied and shown to be similar to that previously reported in the rat. Peak blood levels of primidone were obtained after 1 hr; they fell to very low levels by 6 hr. and were completely cleared by 24 hr. The metabolites produced, PEMA and phenobarbital, are similar to those produced in other species including man. Blood levels following single oral doses of 5 to 150 mg/kg were dose-related so that no explanation for the lack of dose-related teratogenic effect was found.

Animals↗
PubMed1979

Distal trisomy 17q.

A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low-set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.

Abnormalities, Multiple↗
PubMed1977

[Applied phoniatry. IV. Rhinophony (author's transl)].

Rhinophony, which is a change of vocal sound, can appear as a major symptom in many peripheral or central disorders of childhood, adolescence and adulthood. Its investigation, aetiology and management from various points of view are discussed. These are considered broadly as rhinophony aperta (palatal paralysis, functional rhinophony aperta, congenitally short palate); as rhinophony clausa (organic in origin, functional nasal speech); and mixed types of rhinophony. Typical phoniatric problems related to cleft lip and palate are also presented.

Auscultation↗
PubMed1978

Cold-induced profuse sweating on back and chest. A new genetic entity?

Two sisters whose parents shared a grandfather had cold-induced sweating. Since childhood they had sweated profusely from the back and chest when exposed to environmental temperatures of 18 degrees to 7 degrees C. They had additional abnormalities--e.g., high palate and inability fully to extend the elbows--which neither their parents nor their sibs shared. The cold-induced sweating, which could not be stopped by a beta-adrenergic blocking agent, was abolished by postganglionic blockade with atropine sulphate. This indicates the possibility of a peripheral mechanism.

Administration, Oral↗
PubMed1979

The cellular effect of 5-bromodeoxyuridine on the mammalian embryo.

It is well known that 5-bromodeoxyuridine (BUdR) when injected into pregnant animals may cause exencephaly, cleft palate, and limb abnormalities. Similarly, it is well established that the drug when added to a culture medium may prevent differentiation of embryonic cell systems without affecting cell division or cell viability. The goal of our experiments was to examine whether the congenital malformations resulting from BUdR treatment were due to lack of differentiation of certain cell lines or were due to other mechanisms. The effects of BUdR on proliferating and differentiating cells in the 12-day mouse embryo were therefore examined and special attention was given to the proliferating cells of the rhombic lip which give rise to the Purkinje cells. When the embryos were treated with BUdR the mitotic index of the neuroepithelium of the rhombic lip doubled in value 3 h after treatment and remained high until 24 h later. By using the colchicine index it was calculated that the mitotic duration in the BUdR-treated embryos lasted at least 2 h and that in the control embryos less than 1 h. When the cell generation time in the BUdR treated animals was calculated the length of the S-phase was increased by about 50%. It was thus concluded that BUdR caused an increase in the duration of the S-phase and mitosis, together making the cell cycle 5 h longer than normal. Eighteen hours after treatment many neuroepithelial cells became degenerative. By radioautography it was demonstrated that the degenerating cells were in their second DNA-synthetic phase following BUdR injection and that cells which incorporated BUdR and were differentiating into neurons were not affected. By injecting [3H]BUdR it was found that many cells which incorporated the analogue were able to leave the proliferative population after their first cell division. They migrated to the periphery where they developed into apparently normal Purkinje cells. The additive effects of cell death and retardation of the cell cycle caused a 15% deficit of Purkinje cells in the postnatal cerebellum but the BUdR did not interfere with their differentiation. Thus, contrary to the BUdR effect on cultures of embryonic cells, in vivo the drug causes cell death and a delay in the cell cycle time. Our experiments therefore seem to indicate that the congenital malformations caused by BUdR in the mammalian embryo are caused by cell death and growth retardation rather than by interference with the process of differentiation.

Abnormalities, Drug-Induced↗
PubMed1978

Epiglottic entrapment by arytenoepiglottic folds in the horse.

An abnormality of the epiglottis and arytenoepiglottic folds that caused epiglottic entrapment was diagnosed in 21 horses. Until recently, this entrapment was poorly understood. Definitive diagnosis of epiglottic entrapment can be made only by endoscopic examination of the epiglottis, arytenoepiglottic folds, and soft palate to differentiate the abnormality from dorsal displacement of the soft palate. Dorsal displacement of the soft palate is often associated with entrapped epiglottis. Epiglottic deformity, especially hypoplasia, is often associated with the entrapment. The abnormality was detected in horses 1 to 16 years old. Because of the relatively large number of young animals (11 being less than or equal to 2 years old), a congenital predisposition was suggested. This suggestion was strengthened by the fact that many of the horses had deformities of the epiglottis that were considered congenital. Because some of the horses had trained and raced satisfactorily before signs of upper airway obstruction developed, it was assumed that the abnormality may be a sequel to epiglottic injury.

Animals↗
PubMed1977

The Stickler syndrome (hereditary arthro-ophthalmopathy).

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.

Abnormalities, Multiple↗
PubMed1978

Infant with abnormal pigmentation, malformations, and immune deficiency.

An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

Abnormalities, Multiple↗
PubMed1975

Trigonometric method of analysis of the upper part of the mouth cavity.

A method of analysis of a cast of the upper part of the mouth cavity which allows a comparison of various forms thereof, by the use of five parameters is described. For their calculation, only five measurements between four pre-determined points are needed. With the great accuracy which the method ensures, it is possible to follow, at short time intervals, the changes brought about by jaw-orthopaedic and surgical procedures. Numerical and schematic graphical comparison permits a rapid evaluation of results achieved in the treatment of clefts. The character of the parameters elucidates the morphogenesis of clefts and indicates the most rational therapy.

Alveolar Process↗
PubMed1979

Prevention by tiopronin (2-mercaptopropionyl glycine) of methylmercuric chloride-induced teratogenic and fetotoxic effects in mice.

Previous investigations (Fuyuta et al., '76, '79) have shown that a single oral administration of 25 mg/kg methylmercuric chloride (MMC) to pregnant ICR mice on day 10 of pregnancy induced cleft palate in a remarkably high incidence in fetuses. Based on these findings, the present study dealing with the prevention of cleft palate by Tiopronin, (2-mercaptopropionyl glycine, Tp), was initiated. Twenty females in the positive control group were given 25 mg/kg MMC orally on day 10 of pregnancy and then given physiological saline intraperitoneally. Twenty females in the negative control group were given distilled water orally and then given saline intraperitoneally. Cleft palate was found in 98.1% of fetuses in the positive control group and none of them in the negative control group. Twenty females were pretreated with a single oral dose of 25 mg/kg MMC on day 10 of pregnancy and were posttreated with Tp intraperitoneally, immediately and at every 24, 48 and 72 hours after the MMC treatment. The doses of Tp were 320, 160 and 80 mg/kg/day. The incidences of cleft palate in fetuses were reduced to 1.49, 31.3 and 47.8% in the Tp-treated groups with the doses of 320, 160 and 80 mg/kg/day, respectively. Tiopronin could effectively prevent the expected incidence of cleft palate. Other types of abnormalities as well as fetotoxicity represented by reduced fetal body weight were also effectively prevented with the Tp-treatment.

Abnormalities, Drug-Induced↗
PubMed1977

Arhinencephaly (holoprosencephaly) associated with external hydrocephaly.

A female infant, weighing 2,263 g had been spontaneously delivered at the 33rd week of gestation. The only noticeable abnormality was a cleft palate, but within the next few days, she developed low temperature, spastic movements in the extremities, and depressed respiration. These abnormalities soon became worse and she died on the 12th day. Clinically, she was not suspected of having malformations of the brain, but on autopsy, an external hydrocephaly (400 ml) and small arhinencephalic brain (75 g) were noted. In the brain, the growth of the diencephalon was exceedingly poor but the growth of the rhombencephalon was relatively favorable. The olfactory bulbi and tracts in the telencephalon were absent. These findings were similar to those seen in cases of arhinencephaly (or holoprosencephaly). In the cerebral ventricles, the lateral ventricles and the IVth ventricle were enlarged, but the IIIrd ventricle could not be identified. Communication could only be found between the lateral apertures of the IVth ventricle and the subarachnoidal spaces.

Brain↗
PubMed1978

Developmental abnormalities associated with long arm deletion of chromosome No. 6.

A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included development delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformation were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patient's features are compared with others who may have material deleted from the long arm of chromosome No. 6.

Abnormalities, Multiple↗
PubMed1978

Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature.

The term "spinal dysraphism" was coined in 1940 by Dr Lichtenstein to designate incomplete fusion or malformations of structures in the dorsal midline of the back, particularly congenital abnormalities of the vertebral column and spinal cord. Raphes develop on the face and head, brancheal arches, sternum, and spinal column. When dysraphism occurs in these sites, failure of closure of fontanelles, cleft lip and palate, brancheal cysts, and abnormalities of the ribs and spine result. A review of 200 cases of occult spinal dysraphism showed the condition to be more common in female patient and to be associated with cutaneous signs in more than 50% of instances. The age at which neurologic symptoms appeared in recorded cases is from birth to 76 years, the average being three years. A case of spinal dysraphism with a tail-like cutaneous structure is presented. The cutaneous manifestations accompanying spinal dysraphism that may lead to early recognition of this syndrome and early institution of treatment are discussed.

Adult↗