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Congenital Abnormalities of the Mouth W Congenital Abnormalities of the Mouth W. K. LINDSAY, MD SUMMARY The spectrum of congenital malformations in the mouth is broad. The incidence of any one condition is not great, with the exception of the anomalies of cleft lip and cleft palate. Most of these oral malformations can produce urgent problems in neonatal management for the physician, including the care of the distraught parents. Considerable plastic and reconstructive surgery is involved in the subsequent management. The modern key to the complete successful management of these patients is the participation of a multidiscipline team. Dr. Lindsay is chief of the Division of Plastic Surgery at the Hospital for Sick Children in Toronto and professor and chief of the Interhospital Coordinating Committee for Plastic Surgery at the University of Toronto. Address for reprints: Room 2221, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont. M5G 1X8. ACONGENITAL ABNORMALITY glossoptosis and usually cleft palate) Neonates with minor deformities may of the mouth in a newborn al- may cause respiratory distress by im- be breast fed, but as the deformity ways presents to the physician as one pingement of the retrodisplaced increases in severity, so does parental form or another of acute problem. tongue into the posterior border of the trepidation, and the likelihood of These problems may include: airway palate cleft. Careful prone, or semi- physical problems interfering with problems, sucking and swallowing prone, nursing is usually helpful. Cer- breast feeding. Artificial feeding re- problems, the risk of aspiration, the tain tongue surgical procedures, and quires patience. Trials of different need to be on the alert for the very rarely tracheostomy and/or gas- infant positions are helpful. A variety presence of additional associated con- trostomy, are indicated in a small of nipple sizes and textures should be genital deformities, and psychosocial number of patients. experimented with. The nipple hole disturbances. may require adjustment. With atten- Feeding Problems tion to these points, most babies with Airway Problems Feeding problems, if encountered congenital deformities of the mouth Airway problems are as often the at all, occur early. They are usually will feed satisfactorily within two to result of associated anomalies as they more of a nuisance than a serious four days. are of the original anomaly being problem. They may take the form of Occasionally, the use of a naso- considered. Oral anomalies are occa- weak sucking ability or poorly co- gastric tube is necessary. Usually, the sionally associated with choanal at- ordinated swallowing. Early alert for babies are offered the bottle first. resia, which, when bilateral, is a major the possibility of aspiration is essen- When they tire, the residual formula is cause of upper respiratory distress. tial. Aspiration is not common, but given by nasogastric tube. As the baby Pierre-Robin syndrome (micrognathia, once it occurs, it can be disastrous. gains strength and learns coordination, CAN. FAM. PHYSICIAN 22:545 MAY 1976 63 decreasing amounts will be left for the not be involved in the neonatal period. monly in mongoloid populations. Cleft tube. Very rarely is gastrostomy re- The Facial Treatment and Research lip is commoner in males, whereas quired. Centre of The Hospital for Sick Child- isolated cleft palate (CP) is commoner An infant with one congenital ano- ren is an example of such a team. in females. maly has a greater than average chance Many patients with oral congenital The birth weights of CL(P) babies of having a second anomaly. Also, if deformities have complex dental prob- are within the expected normal ranges, the infant with the oral anomaly is lems eventually requiring the care of whereas children with many other having airway or feeding difficulties, pedodontists, orthodontists, and pros- major malformations have decreased an additional anomaly may well be thodontists. Many such patients have birth weights. Birth rank and parental present. The local areas which may be speech problems requiring the services age do not differ from non-cleft situa- involved are the cranium, ear, eye, and of speech pathologists, and therapists. tions. Socio-economic, geographic, nose. Distally, cardiac and extremity Some have ear problems requiring oto- seasonal or temporal factors do not anomalies are common with deform- laryngologists. A number have some influence the incidence of CL(P). The ities of the mouth. Isolated cleft palate degree of psychosocial disturbance re- intelligence of CL(P) children is within has the highest incidence of associated quiring continuing medical social the broad limits of normal. anomalies - 40 percent. work, psychological and psychiatric Thus, the arrival of a CL(P) baby is Parents are always upset, and to a help. These services are best coordi- particularly distressing because most much greater degree than is apparent. nated through a multidiscipline group of these babies are otherwise essenti- They are concerned about the cause of or team. Individual members of the ally normal, and because the defect is the condition, and why this had to team may be involved during the so visibly obvious at all times. happen to them. They are concerned neonatal period on the request of the CL(P) has a multifactorial etiology. that it is something one or both of physician. The extent of genetic influence is not them has done wrong. Next, they want completely understood. Of affected to know what can be done for the The Lips families, 30 percent will uncover a child. Feelings of dismay and guilt can Cleft lips were formerly called hare- family history of the condition. The be lessened if these points are all lips, but the animalistic connotation of genetic influence on CL(P) is greater discussed several times with both the latter term has prompted its dis- than for isolated cleft palate. The role parents very early in the neonatal appearance. Cleft lips may be uni- of possible environmental factors is period. These discussions should be lateral or bilateral; complete or incom- not clear. More is known about this in combined with the presentation of a plete (Fig. 1). A cleft lip may occur animals than in humans. None of the treatment plan. with or without a cleft palate, CL(P), known animal environmental factors and as such presents itself in slightly have been definitely linked with the Multidiscipline Management over 1:1,000 live Caucasian births, causation of human CL(P). It is there- Group management, or multidis- making it one of the commoner birth fore difficult to answer what is often cipline care, is available for most oral deformities, and the most common the first question of these parents - anomalies and is essential for the readily visible birth deformity. It "What caused it?" - in a satisfying complete and continuing care of these occurs least commonly in North manner. patients. Such an organization may American negroes, and most com- A cleft lip may be repaired immedi- Fig. 1. Types of cleft lip. A. Unilateral cleft lips; incomplete and complete. 64 CAN. FAM. PHYSICIAN 22:546 MAY 1976 ately after birth or when the baby is mucosa, cheek musculature, and in- by four to six years of age, it is treated showing steady weight gain. The volved face skin, with special attention by surgical excision of the involved operation can be done quite success- to the oral commissure region. area. fully at any age. A neonatal operation has the advantage of making the baby Microstomia occurs in conjunction Asymmetrical lips may be caused more acceptable to the parents before with some cases of cleft palate, micro- by a number of factors such as uni- they take him home. It has the dis- gnathia, and orofacial digital syn- lateral cleft mouth, soft tissue tumors advantage of causing considerable dromes 1 and 2. It may be difficult to or congenital facial palsy. Facial palsy, parental disappointment over the in- insert a mouth gag or work inside such when associated with a regional ano- evitable residual deformities because mouths. Microstomia may be asso- maly such as first and second branchial the parents never knew exactly what ciated with drooling, but causes few arch syndrome, will be permanent. the baby was like before the opera- other functional problems. It causes Some cases of isolated facial palsy do tion. Most cleft lips are repaired at six no cosmetic problem. improve spontaneously in the first few to 12 weeks. The baby should be weeks of life. Physiotherapy and nerve showing a steady weight gain, and the Mandibular lip pits, or van der stimulation are of no value in the hemoglobin should be at least ten Woude lip pits, occur in certain CL(P) infant. Likewise, surgical reanimation grams (Fig. 2). All CL(P) patients families. This complex is inherited, as procedures are of very limited value in require continuing care throughout life if due to a single dominant gene with the infant, and should be reserved for by the multidiscipline team described variable penetrance or expressivity. the child over six years of age. above. Some cases require revisionary When one patient has any expression surgery at varying times throughout of the gene, about 50 percent of the Tongue life. All cases have some permanent offspring have some manifestation. Tongue tie, or short tongue frenu- residual deformity (Fig. 3). The family The pits may be single or double, lum, is rarely pathological in the new physician can be of inestimable value superficial dimples or deep sinuses. born. Correcting tongue tie in infancy in facilitating early parental and later Treatment is predicated by their obvi- is rarely, if ever, indicated for func- patient acceptance. Only patients with ousness, and is carried out by simple tional reasons. Parents and grand- these forms of acceptance develop and surgical excision.
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