Although it is difficult to accurately determine the frequency of congenital malformations and congenital anomalies, it is around 4% of all births. Etiologically, congenital malformations may be due to either chromosomal abnormalities, genetically acquired environmental factors, or accidental events during intrauterine life.
They are distinguished in:
congenital malformations -Morphogenetic Deficiencies: This is a failure to fully shape an organ. They belong to this group the various agenesis, hypoplasia, syndactyly, clefts, etc.
congenital malformations -Cumulative Deformities: They are characterized by a large number of tissues, e.g. polydints.
congenital malformations -Hamartomas: This term is used for a group of lesions that are on the verge of actual cancer, e.g. nevi, hemangiomas, etc.
Prenatal screening of the fetus, especially in high-risk parents, is a prerequisite for the early diagnosis of congenital anomalies. The possibilities of treating them surgically, as well as the effects on the quality of life, are determined by a team of specialists. In severe congenital malformations and incurable cases, termination of pregnancy is the only way out. The science of nursing acts as a function when the patient is approached holistically with responsibility and a willingness to offer. Especially in pediatric nursing where the coordinates are modified, the nurse needs understanding and flexibility for the more correct treatment of the child in combination with the family, which is called to be included in the treatment plan and rehabilitation of the young patient.
Clefts are one of the most common congenital malformations and are due to the incomplete formation of the soft and hard tissues of the mouth during fetal development. The most common forms are cleft lip (cleft lip) and cleft palate (lycostoma) which are characterized by discontinuity in the structure of specific tissues in the middle of the face.
Apart from the obvious deformities, the slits also cause a series of functional problems in nutrition, speech, hearing, breathing, etc. They are not associated with mental retardation problems, unless they occur in the context of a syndrome along with other abnormalities that may affect mental function.
The treatment of these congenital malformations begins in the first months of life of the fetus and can last until adolescence, sometimes requiring multiple surgeries and other treatments. The treatment is surgical and must be done by a specialist pediatric surgeon.
Symptoms and Diagnosis
In most cases the lycostoma and the cleft lip cause quite obvious morphological changes, which are easy to detect.
The severity of each case depends on the extent and extent of the tissue discontinuity. A lip cleft can range from a small cleft as a notch at the lower end of the upper lip (incomplete cleft) to a large partition extending into the nose (complete cleft). The cleft palate can be a small tear in the tip of the soft palate (palate) up to a wide partition that can extend and affect the upper jaw, hard and soft palate, and grape.
A cleft can be unilateral affecting only one side of the face or bilateral affecting both sides. Clefts usually form at the point between the canine and the lateral area. Sometimes the lateral section (the second tooth from the center) may be completely missing or not properly developed with an irregular shape of the mill or root. In severe cases, the growth and location of other teeth in the problem area can be affected.
Several clefts are visible after the 14th-16th week of pregnancy and are detected before birth on ultrasound during regular fetal examinations. After birth, clefts are easily detected during macroscopic examination of the mouth. Naturally, the cleft lip is much more visible than the lycostoma.
Diagnosis is relatively difficult only in certain palate clefts that are found only in the soft palate at the back of the mouth. Sometimes the cleft is located in the muscles of the soft palate covered by a continuous layer of mucosa and is not visible. Clefts of this type are perceived at the beginning of the speech due to the problems they cause.
Fluid running from the nose is a sign of soft palate cleft, while inability to breastfeed and difficulty swallowing are symptoms of hard palate cleft. Also in lycostoma due to the communication of the mouth with the nasal cavity one of the characteristic symptoms is the nasal speech.
If a form of cleft is found in a newborn, careful examination should be performed for the presence of other abnormalities, in case the cleft is due to a genetic syndrome.
What causes cleft lip and palate?
Clefts are thought to be caused by a combination of genetic and environmental factors. The exact etiology of cleft lip and palate is not known, but it is believed to be due to one or more of the following 3 factors:
Inherited traits (genes) from parents. If one of the parents has lycostoma or cleft lip there is a 2-5% chance of having a child with the same problem. Also if the first child in a family is born with clefts, there is a 3-5% chance that the next child will have the same problem.
Environmental factors that affect pregnancy. The health and habits of the mother also affect the development of the fetus. Smoking, excessive alcohol consumption, lack of folic acid, certain antiepileptic drugs, exposure to certain chemicals or radiation, and infections during the critical periods of pregnancy have been reported as increased risk factors for cleft palate.
Genetic syndromes. Lycostomy manifests itself along with other abnormalities in over 400 genetic syndromes such as Waardenburg, Pierre Robin, and Down. About 30% of clefts are linked to a genetic syndrome due to chromosomal or genetic abnormalities.
However, in most cases of clefts, no known etiology is found.
- Congenital malformations