A deforming birth defect has a devastating psychological impact upon the child's parents, and it has the potential for lifelong impact upon the physical, psychological and socioeconomic well being of the child. Plastic surgery can improve or correct many of these birth defects. Because timing of surgery is often an important factor in improving the prospect for a successful outcome, early consultation should be sought with a plastic surgeon.
The primary care physician and the plastic surgeon work closely together in designing the most effective treatment plan for the affected child. Commonly, they work in the context of a multidisciplinary team. The family physician and pediatrician may work together with the surgeon to help the parents deal rationally with treatment options. The physicians also may counsel the parents regarding the emotional, psychological and financial resources that may be strained by treatment that sometimes requires many months or years to complete.
Cleft lip/cleft palate is one of the more common congenital defects, with an incidence of about 1:750 U.S. births.
Anomalies of the heart and other organs are found in a substantial percentage of cleft lip/cleft palate patients – especially in conjunction with bilateral clefts. Every neonate with facial clefting should have a complete pediatric examination for indications of additional anomalies.
Cleft lip may occur alone or in conjunction with cleft palate. Its forms range from mildly disfiguring to bilateral complete cleft with nasal deformity and involvement of the hard palate and teeth.
Treatment begins soon after birth with pediatric evaluation of the patient for any coexistent anomalies, evaluation of the defect by a plastic surgeon, and consultation with the family regarding treatment options. Nonsurgical treatment – elastic headcap traction, a nose retainer and preoperative orthodontics – may be used early, if indicated.
Lip repair can be performed any time after birth. In general, most repairs are timed according to the "Rule of 10s" – 10 weeks old, weight of 10 pounds and 10 grams of hemoglobin.
Subsequent secondary surgery may be necessary for repair of a nasal deformity, revision of an earlier repair as the patient grows and develops, or repair of postoperative abnormalities in the scar.
Severe bilateral cleft lip requires treatment and ongoing counseling throughout the patient's childhood and adolescence.
Repair of the palate is directed at producing normal speech, restoring eustachian tube function, attaining closure of oronasal fistulas and minimizing alterations in maxillary growth. Depending on the patient, repairs may start as early as 10 months or as late as 24 months.
Planning for primary surgical repair begins in the hospital shortly after the child is born, or soon after discharge. A small or moderate degree of clefting may be repaired by simple closure; a larger defect may require a pharyngeal flap, alveolar arch alignment, orthodontic and dental work, and bone grafting. Dental, orthodontic or prosthodontic consultation is sought when teeth are malformed or missing. Bilateral clefts are the most complex to repair, requiring a spectrum of medical and surgical specialists.
In some cases, secondary soft palate (velopharyngeal) surgery may be necessary some months or years after primary palate repair, to correct hypernasal speech. Speech-language pathologists may assist in identifying the specific defect to be repaired. Velopharyngeal repair procedures include (1) palatal pushback plus pharyngeal flap lining, (2) posterior pharyngeal wall implant with Teflon injection, (3) pharyngeal flap, (4) palatopharyngeal flap, and (5) tissue expansion to create a flap.
Some patients require months or years of speech-language training to acquire normal speech. The family members of a cleft palate patient may need long-term guidance and counseling to support them through the years of treatment.
Hemangiomas and Other Benign Vascular Lesions of the Skin
Hemangiomas and lymphangiomas, the most common benign tumors of the skin in neonates, may be present at birth or appear in the first months after birth.
Some lesions regress and disappear in the first few months of life – e.g., the strawberry hemangioma. Large vascular lesions in critical locations can be life-threatening as well as disfiguring – e.g., multiple hemangiomas of the newborn involving skin, liver and intestinal tract.
Consultations with a plastic surgeon may include consults with other specialists such as a hematologist when a lesion is very large or life-threatening.
Laser treatment is often effective in the treatment of vascular lesions, including port-wine stain and unregressed strawberry hemangioma. Careful evaluation is required prior to laser treatment.
Pigmented Lesions of the Skin
Pigmented lesions in the newborn are frequently difficult to interpret regarding their present or potential malignancy.
Early consultation with a plastic surgeon and pathologist initiates (1) planning for surgical removal or other appropriate treatment and (2) providing treatment options and counseling to the parents.
Large congenital nevi pose a significant risk of early malignancy or later malignant transformation. Large and sometimes hairy nevi also are physically uncomfortable and psychologically damaging for child and parents. Surgical excision with skin grafting is often a treatment of choice.
Malformations of the Ear
Ear malformations such as microtia can severely affect a child's self-image, especially if the condition is allowed to go uncorrected until school age. The importance of well formed ears in overall facial aesthetics is, unfortunately, reflected in the teasing and bullying inflicted by schoolmates on a child with malformed ears.
Microtia is usually apparent at birth or soon after, and it is seen as a "remnant" ear lobule, concha, acoustic meatus, tragus and incisura intertragica. Microtia is typically unilateral. Bilateral microtia may be associated with severe hearing defects that require consultation with an otologist.
As soon as microtia is identified, the plastic surgeon should partner with the primary care physician in planning an approach to reconstruction. Consultation with the child's parents will help to plan the age at which reconstruction should begin; reconstruction is often recommended to be completed before the child enters school. Because autologous rib cartilage is commonly required to form a new ear framework, definitive reconstruction may take place at about age 5 or 6 years when rib growth has been adequate. Parents should be informed regarding potential complications of harvesting rib cartilage. Skin-flap techniques are commonly used to mobilize the skin used to cover the new ear framework.
The ultimate success of microtic reconstruction depends on patient selection, adequate counseling of parents, selection of the proper material for an ear framework, surgical skill, and detailed attention in the intraoperative and postoperative periods to prevent complications such as infection, skin flap necrosis and undue pressure on the ear.
Malformations of the Hand
Hand malformations include syndactyly (webbed fingers), polydactyly (extra fingers), trigger fingers, crooked fingers, absent thumb, short fingers and missing fingers. All congenital hand malformations should raise suspicion of associated deformities of other organs or tissues. Syndactyly, for example, is frequently a readily visible manifestation of Poland's syndrome – congenital absence of thoracic structures in association with hand malformation.
Plastic surgery can correct many hand malformations definitively; in other instances, plastic surgery can provide some degree of functional capacity. An example of functional restoration is microvascular toe-to-hand tissue transfer, which offers potential for surgical correction of hypoplastic or aplastic fingers. Consultation with the patient's parents must stress the importance of restoring function to the malformed hand, even if cosmetic appearance is a secondary consideration. The unique function of the hand throughout life mandates that function be restored as fully as possible – e.g., providing pinch and grip function will be essential to many occupations.
The primary care physician has an essential role in working with the patient and family to ensure that exercise and rehabilitation regimens are followed, in order to maximize the advantages of surgical reconstruction and prevent debilitating complications such as contracture.
Anomalies of the Breast
Congenital breast asymmetry may be a manifestation of underlying congenital anomalies. Poland's syndrome, the most frequent congenital cause of breast asymmetry, results in thoracic structure deformities, breast asymmetry and ipsilateral syndactyly. Computed tomography and magnetic resonance imaging are definitive in identifying the thoracic deformities.
Treatment of breast asymmetry due to Poland's syndrome may include prosthetic augmentation, use of a musculocutaneous flap to fill hollow space on the exterior of the chest, or augmentation with tissue from the opposite breast. Definitive treatment includes surgical repair of the chest wall.
As in the case of other congenital deformities, Poland's syndrome may be seen in association with anomalies of other tissues and organs.