Frequently, one or more bone grafting procedures may be required, and at skeletal maturity an artificial cheek implant may be considered. Although bone grafting can correct the bony deficiencies, these bones have a high risk of reabsorption over time. One of the most challenging aspects of Treacher Collins syndrome is repairing the cheek and eyelid region.
If your child’s eyes are exposed, lubricants and surgical procedures to rearrange the eyelids and partially close the eye may be required to protect the eyes. Learn more about the surgical repair of cleft palate. If your child has a cleft palate - a condition where the roof of the mouth does not close fully during fetal development - it is typically repaired when your child is about a year old. Severely affected children may need a tracheostomy for the first several months or years of life until more definitive procedures can be performed.Lengthening of the jaw via distraction osteogenesis.Airway issuesĪt birth, if your child has an airway obstruction, she may need a variety of procedures to help her breathe better, including: Your child may benefit from waiting until she reaches certain developmental milestones before proceeding with other treatments, such as plastic surgery.Ĭhildren with Treacher Collins syndrome will likely have a combination of the following treatments depending on their unique condition. Some issues, such as trouble breathing, need to be addressed immediately. Timing can be a critical factor in treatment. We will work with you to prioritize your child’s needs and establish a comprehensive treatment plan that addresses both physical and psychosocial needs, including planning for staged surgical repair and reconstruction. Consultation with an experienced craniofacial team is extremely important in achieving the best outcomes for your child.Īt CHOP - where we have expertise in every pediatric specialty - your child will have access to a multidisciplinary healthcare team and coordinated care through our Craniofacial Program or Neonatal Craniofacial Program, which offers specialized care for infants. The treatment of Treacher Collins syndrome varies tremendously from patient to patient and depends on the severity of the deformity and long-term needs of the child. Some of the facial characteristics of Treacher-Collins syndrome mimic those seen in children with hemifacial microsomia but hemifacial microsomia differences are typically one-sided or asymmetric, whereas in Treacher Collins, characteristics are similar on both sides of the child’s face. Additional diagnostic tests include X-rays and CT scans to better examine your child’s bone and cartilage structure. Not all patients with the syndrome have genetic markers. Your child’s healthcare team may also test her DNA to determine if any of the genes associated with Treacher Collins syndrome are present. Experienced physicians will make the diagnosis based on your child’s appearance: the characteristic eyelid abnormalities, cheek clefts, small jaw, and ear anomalies. In this case, doctors in CHOP’s Craniofacial Program will evaluate your child. Most children are not diagnosed with Treacher Collins until after birth. If you are pregnant and your unborn child has these distinctive characteristics, you may be referred to CHOP’s Center for Fetal Diagnosis and Treatment. Some of the abnormal facial features are visible during prenatal ultrasound. The diagnosis of Treacher Collins syndrome can be made before or after birth.
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