Visible Malformations of the Face
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Incidence | Illustrations |
Among the visible malformations of the face, cleft lip and palate are most frequent with more than 1 in 1000 newborns. | show details |
Clinical significance | |
1. Disturbed esthetic appearance and body functions; in Pierre Robin sequence with mandibular retrognathism and cleft palate even life-threatening. | |
Etiology | |
Combination of genetic factors with still unknown exogenous damage during the first and second month of pregnancy. | |
Pathology, anatomical types | Illustrations |
Partial and total, uni- and bilateral cleft lip; partial and total cleft palate; combination of both types. Usually, clefts are isolated malformations; in 5 to 10 %, clefts are combined with different malformations (syndromic clefts). |
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Pathophysiology | |
Disturbance of food intake, respiration, and to thrive due to a deficient strength of sucking and an insufficient formation of a vacuum. In Pierre Robin sequence: difficulty to breathe leads to an insufficient food intake and a failure to thrive. With cleft palate there are delayed and disturbed speech development, recurrent otitis, and impaired respiration through the nose. With cleft alveolus there are anomalies of the adjacent teeth, and malocclusion. The disturbed esthetic appearance causes problems of acceptance by the parents, and later by the patient him- or herself. | |
Clinical presentation (history, findings, clinical skills) | Illustrations |
The clinical picture corresponds to the local findings of the different types of cleft lip and palate and their individual variability. No single cleft looks like another cleft. A precise inspection of the face, vestibulum and oral cavity is important in every newborn for recognizing even slight types of clefts, such as a bifid uvula, a notch in the alveolus or of the lip. Depending on the experience, a cleft lip and, to a lesser degree, a cleft palate may be identified in utero by ultrasound. | show details |
Natural history | Illustrations |
Without treatment, there is a further disarrangement of the anatomical structures, and worsening of the functions, rendering the treatment much more difficult. | show details |
Differential diagnosis | Illustration |
Vertical, oblique and lateral clefts of the face. | show details |
Work-up examinations | Illustrations |
Reproducible illustrations of the local findings in cleft lip and palate, models of the tooth bands in cleft alveolus. Search for combined malformations; in suspected syndromic clefts: analysis of the chromosomes. | show details |
Therapy | Illustrations |
Coordinated team approach up to adolescence in a tertiary center involving all specialists in this field for treatments and follow-ups. | show details |
Prognosis | Illustrations
(see Therapy) |
Concerning esthetic appearance, dental occlusion, hearing, and speech, the results are good nowadays, but are easier to obtain in uni- than in bilateral or in combined types. Concerning survival, the prognosis is excellent except for some syndromical clefts, and Pierre Robin sequence.
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