Birth defects are merely errors in the complex process of an embryo becoming a baby. Some of them may have devastating consequence while some are mere variations. Plastic surgeons are using their skills everyday all over the world in performing life changing surgeries to bring about hope to millions of such babies and their families. Continuing the feature from the last week, Dr. Mohan discusses cleft defects in detail and briefly touches upon other common anomalies.
Cleft lip (CL) Other wise called harelip, CL is quite common especially is certain parts of the world. CL repairs were described in the Chinese literature as far back as 4th century AD. Clefts can occur as an isolated anomaly or associated with other defects as in syndromes. The incidence is higher if parents or siblings have clefts but it may also happen without any family history. Clefting may occur also in the palate [CP], the part that forms the roof of the mouth. Both types of clefts may occur together as well [CLP]. Finally both CL and CP may be present on one or both sides.
Since a CL involves a visible area of the face, it has great psychological and functional impact. The parents are usually devastated when they first see their bundle of joy. A bilateral CLP looks like a severe uncorrectable mutilation. Fortunately, with modern management, such children can be restored to near normal appearance. A plastic surgeon can show them before and after pictures to restore their confidence. There are also numerous websites and online support groups. The parents need emotional support so that they can overcome their initial shock and bond well with the baby. This is essential for their proper physical and emotional growth.
Cleft Lip: The lip appears split and twisted upwards on the same side. In addition, the gum and the nose on that side are also affected. All three areas develop from the same part in the fetus. The importance of this fact is that all three areas also need correction, but at different ages. Such babies usually do not have much difficulty in feeding, so do not need any special appliance. Some babies have a very prominent gum protruding through the lip; they need a splint to push it back gradually; such splints are made by a dentist. The baby must be seen soon after birth by a plastic surgeon for proper treatment planning. Lip repair is usually done at 3 months of age under general anesthesia. A fair degree of correction of gum and nose can also be achieved at this stage. The baby looks quite normal after this surgery but will usually need more surgery to do bone grafting for the gum at 9 years and for nose correction at 14 years of age. Unfortunately many parents do not follow through with these refinements so the child remains with some stigmas.
Cleft Palate: The palate consists of the bony roof and a soft palate behind this; this is the part that moves during speech. This can be seen when one says “aah”. The function of a normal soft palate is to separate the mouth cavity from the nose so that pressure can be built up in the throat during speech. In CP, the muscles of the palate are not properly attached; they cannot do their job properly so speech gets distorted. The primary purpose of palate repair is to enable proper speech development. If not repaired by 18 months of age, the baby develops distorted speech and such bad habits are difficult to correct later.
Clefts may be missed in many cases especially in the incomplete forms where only the soft palate is split. There is even a concealed variant where only the bone is split under the mucosa so it can only be detected by feeling the roof of the baby’s mouth by a finger – this test should be done once after birth to rule this out. Unlike CL, CP babies have lots of difficulties. Initially, breast feeding may be difficult as the bay cannot develop vacuum in the mouth. A bottle with a large teat and a bigger hole is recommended. Breast feeding is still possible using some aids. A lot of patience is needed to ensure adequate intake as these babies need frequent burping breaks. Close surveillance by the pediatrician and plastic surgeon is needed in these early days to ensure that the baby gains weight normally. The baby is more at risk of ear infections and ‘glue ear’ so frequent ENT checks are also needed. A dental splint is needed for maintaining gum alignment.
Surgical repair is done at 12 to 18 months age when the baby is big enough. Muscles of both sides are released from their wrong insertion and repaired in the corrected position. The gap in the palate is then closed. Sometimes a part of the gap in the front may have to be left open for later closure. The child then needs intensive speech therapy is to ensure correct speech development. At 5 years of age the speech and function of the soft palate is re-assessed to see if further surgery is needed to improve palate closure.
Cranial deformities: A multitude of other anomalies exist in the head and face, in fact 15% of all births may have some minor anomaly usually of no consequence. But only 1% of all births have three or more anomalies together and these could be more serious. Some are obvious but others need a specialist to diagnose them. They are grouped as syndromes and may consist of other facial clefts, anomalies of head/face shape or eye or ear involvement. In some of these cases the brain growth is affected because of early fusion of the skull bones; early surgery is needed to re-create the space. It is a challenge to pick up such cases early enough for surgery to be done. Craniofacial surgery is a highly specialized branch of plastic surgery that deals with this.
Genital defects: Male babies may be born with abnormal position of the urinary opening i.e. not at the tip. This is called hypospadias. After careful evaluation to rule out inter-sex, such cases can be repaired fully, usually in infancy or toddler age. In a small percent of cases, the repair may fail and revisions may be needed. Girls born with missing vagina can also be corrected but this is done at a later age as it is not necessary to do this in a child.
Restoration of near normalcy is possible in many serious congenital deformities; plastic surgeons working with such babies give hope to millions who otherwise would suffer enormous difficulties for no fault of their own. There are numerous groups offering such surgeries to underprivileged communities, the ‘Smile Train’ project is one such program.