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A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.

Abnormalities, Multiple

HLA phenotype frequencies in individuals with cleft lip and/or cleft palate.

The HLA types of 133 patients with cleft lip and/or cleft palate were determined. Caucasian patients with isolated cleft palate showed a possible association with HLA. Ten of 11 male patients had HLA--A2 as compared to one out of eight female patients (P less than 0.005). Caucasian males with cleft lip and cleft palate had a slight increased frequency of HLA--Aw24 (P = 0.07) and Mexican-American males with cleft lip and/or cleft palate showed an increase of antigen HLA-A28 (P = 0.07), though neither were statistically significant. Females with cleft lip and/or cleft palate from either racial group had no differences from the controls. The serum from 90 mothers of patients with cleft lip and/or cleft palate were reacted against their child's lymphocytes. Of these crossmatch tests, 12% were found to be positive. These preliminary results suggest that male patients with isolated cleft palate are worthy of further studies with respect of HLA associations.

Cleft Lip

Genetic counselling and genetics of cleft lip and cleft palate.

Modern neonatal care and advanced plastic surgical correction have led to the survival of most newborns with oral clefts. These children are likely to reproduce. A slight increase in the incidence of oral clefts may be expected in the future. The genetics of cleft lip and cleft palate is reviewed. The inheritance is usually multifactorial. With normal parents the risk of having a first affected child with cleft lip is about one per thousand, the risk of having a second affected child 4 per cent and the risk of having a third affected child 10 per cent. If a parent has already a cleft lip, the risk of having a first affected child now is 4 per cent, while the risk of having a second affected child is 10 per cent. The methodology of genetic counseling is given.

Abnormalities, Drug-Induced

Growth and changes in maxillary arch form in complete unilateral cleft lip and cleft palate children.

This study aims at the comparison of growth changes of the maxillary arch of 62 normals and 87 complete unilateral cleft lip and cleft palate subjects. This is achieved by measuring their maxillo-facial models, which will aid in clarifying such questions as: when and where the maxillary growth inhibition will occur, and the several aspects of growth-change. Patients with complete unilateral cleft lip and cleft palate were classified into four stages: 1) six month old infants before lip and palatal closure; 2) two year old children, lip repair at six months of age; 3) three year old children, lip repair at six months and palatal closure at two years; 4) four year old children, with repairs as in stage 3. Normal subjects were also classified into four stages, to match the cleft group by age and body weight. Impressions were taken for each patient's upper jaw and upper face simultaneously under general anesthesia, and the maxillo-facial model was made. Results obtained were as follows: (1) In the normal group, the forward and downward growth of the anterior alveolar region increased considerably between stages 1 and 2 and stages 3 and 4. The growth of the anterior alveolar arch was slight during all four stages. The depth and width of the retromolar point increased gradually through all four stages, and measured the growth of the posterior alveolar region. (2) In the cleft group: at stage 1 the anterior end of the larger segment was protruded and both the larger and smaller segments, especially in the anterior region, were laterally dislocated. The height of the anterior alveolar region was found to be noticeably less than that of the normal group. At stage 2 the growth inhibition in depth and height was noted in all the alveolar points of the cleft group, especially in the anterior alveolar region, in comparison to the normal group. At stage 3 the depths in all alveolar points decreased, but no significant difference was found when compared to stage 2. However, the increase in heights was marked. At stage 4 the depths and heights of alveolar points in the cleft group were found to be smaller than those of the normal group.

Child, Preschool

Seasonal incidence of cleft lips and cleft palates in Sweden, 1965--1974.

Seasonal trends of infants with cleft lips and palates born in Sweden during a ten-year period were investigated. The study is based on reports to the Swedish Register of Congenital Malformations supplemented with hospital data. Three different statistical methods were used: chi2 for heterogeneity between months, Edwards' method, and a squared sinus function technique. The tests were performed on birth date and date of last menstrual period (LMP) with and without correction for fluctuation in monthly birth rate. Statistical significant seasonality was found both for cleft lips with or without cleft palate (CLP) and for isolated cleft palate (CP) but only for LMP data. For CLP. a peak was found in March and for CP, in April.

Cleft Lip

Factors determining occurrence of cleft lip and cleft palate.

The modern care of newborn infants with oral clefts renders their survival possible. Since they will eventually reproduce, a slight increase in the incidence may be expected and genetic counseling will be requested on occasion. The cleft lip with or without cleft palate has a different genetic inclination from isolated cleft palate and the risk of recurrence is different. Drugs, such as antiepileptics, salicylates, benzodiazepines and cortisone, have a role in causing oral clefts. When an oral cleft is a part of a syndrome, the genetics of the particular syndrome must be outlined and genetic counseling is given accordingly. Oral clefts alone are usually multifactorial.

Animals

Mental, motor, and social behavior of infants with cleft lip and/or cleft palate.

This is a report of analyses of cross-sectional and longitudinal samples of the mental, motor, and social behavior of children with cleft lip and/or palate as measured by the Bayley Scales for Infant Development. Seventy-five patients of the Lancaster Cleft Palate Clinic were the subjects for the sample. The longitudinal sample consisted of 28 of these Ss for whom there were complete data at 6, 12, 18, and 24 months. The results indicated that there were no significant differences in mental and motor functioning. In both analyses, the social behavior of patients with oral-facial clefts was more passive than the Bayley normative sample. The implications of these findings for future research are discussed.

Child Behavior

Syndromes with cleft lip and cleft palate.

A series of tables is presented as a diagnostic aid for the clinician when he confronts a patient who has a cleft lip and/or palate, together with associated anomalies. The tables provide a rapid way of sorting through the recognized syndromes with orofacial clefting in search of a possible overall diagnosis. Today, 154 such syndromes are recognized. This is more than twice as many as were known in 1971. Undoubtedly, many new syndromes with orofacial clefting will be delineated in the future.

Abnormalities, Multiple

[Measurements of the soft tissues in patients with cleft lip and cleft palate].

A comparative study was made on the pressure of the oral soft tissues during sequences of physiological functions and at rest in eugnathic subjects and patients with cleft lips and palates. The data obtained by means of electronic measuring instruments revealed marked differences between the two groups.

Child, Preschool

[Growth of the jaw after preoperative orthodontic treatment of cleft lip and cleft palate].

In 48 patients a systematized therapeutic model plan for the preoperative and postoperative orthodontic treatment of patients with unilateral or bilateral cleft lips and palates is pursued. In addition to stimulation and growth control of the maxillary alveolar segments in a transverse direction and at the segment poles, increasing sagittal development is observed in a later developmental phase.

Child, Preschool

[Interactions between oral surgery and orthodontics in the treatment of children with cleft lip and cleft palate].

The oral-surgical and the orthodontic treatment of patients with cleft lip and palate are interdependent. Consequently, they cannot be performed separately. In most cases, a continuous coordinated treatment planning by both specialties, from the first day of life, will permit to obtain optimal treatment results. The ultimate aim of co-ordinated treatment is not only the aesthetic and functional rehabilitation, but also the securing of the age-related growth of the midface.

Child, Preschool

[Multidisciplinary care of patients with cleft lips and cleft palates in Zürich].

Since about 10 years a coordinated timing of procedures has been used in Zürich for the management of CLP cases. It equally considers the requirements of growth and functional development. Early orthopedic treatment can, however, only be efficient if concomitant primary surgery is adequately timed and performed. The importance of two-stage palatal closure (soft palate 18 months, hard palate after 5 years of age) is emphasized. In contrast to results of former treatment methods, present cleft patients show good arch form and intermaxillary relationship in deciduous and early mixed dentition. The need for orthodontic treatment is considerably reduced. As far as speech development is concerned, the procedure proves to be beneficial as well.

Child, Preschool