Surgical treatment of Treacher Collins syndrome

Morphology, genetic conditioning, terminology, and the principles of treatment of Treacher Collins syndrome have been presented on the basis of our own material, as well as review of literature. Fifty patients (27 males, 23 females) were operated on at the Hospital of Plastic Surgery in Polanica Zdrój from 1976 to 2005. The patients were first seen when they were from 1 to 32 years of age (mean, 7). The disease was hereditary in 17 patients, while the remaining subjects did not reveal any genetic conditioning. The lifesaving surgical treatment was undertaken in 4 children with the most severe form of the disease who presented with dyspnea and paroxysmal apnea. In those cases, the treatment aimed at improving the respiratory function by restoring patency of the nostrils and distraction of the mandible. Twelve patients were operated on for cleft palate between 1 and 2 years of age. Twelve patients had eyelid correction with the use of musculocutaneous flap transposition from the upper eyelid (Z-plasty). The zygomatic bone and lateral wall of the orbit were reconstructed by means of iliac bone grafts in 26 patients. The auricular reconstruction was usually undertaken after 10 years of age. Nine patients underwent bilateral auricular reconstruction by means of a modified Brent method. Fifteen patients aged 12-14 had chin osteotomy according to the Obwegeser method. Nasal osteotomy was performed in 10 patients with characteristic broad, long, and hooked noses, who were operated on after 16 years of age and after completion of orthognathic treatment. In total, 258 surgical procedures were performed in 50 patients, an average of 5.2 operations per every patient. Apart from a multistage surgical treatment, the patients required a combined multidisciplinary approach, mainly due to hearing impairment and occlusal disturbances. The obtained outcome of treatment, although far from being perfect, but still beneficial, confirmed the correctness of applied approach but at the same time pointed to the necessity of introducing new methods of treatment aiming, among others, at compensating for the tissue deficiency by means of tissue engineering.     

Anaesthesia for Treacher Collins and Pierre Robin syndromes: A report of three cases

We present three patients with Treacher Collins or Pierre Robin syndromes who had historical and physical evidence of airway obstruction, difficulty feeding, and sleep disturbances. These preoperative findings correlated with difficult airway management intraoperatively. Based on this experience, we recommend that children with obstructive symptoms have laryngoscopy prior to anaesthetic induction. If the glottic opening is visualized, inhalational induction can proceed. If the glottic structures cannot be visualized, then the anaesthetist must choose between awake oral or nasal intubation, elective tracheostomy, or fiberoptic intubation. In all cases, a tracheostomy tray should be ready and a surgeon experienced in paediatric tracheostomy should be in attendance. After intubation, anaesthesia is best maintained with oxygen and a potent inhalational agent. Extubation should only be done with the patient fully awake and with emergency airway equipment immediately available. Postoperatively, these patients should be transferred to an intermediate care area or intensive care unit where they can be observed closely since delayed complications of airway obstruction are common in this group of patients.     

A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome

INTRODUCTION: Treacher Collins syndrome is an autosomal dominant mandibulofacial dysostosis with characteristic hard- and soft-tissue facial abnormalities. These include ocular malformations, ear malformations, and hypoplasia of the facial skeleton, especially of the malar bones and mandible. Traditionally, surgical correction of the facial abnormalities has focused on skeletal reconstruction to restore facial form and symmetry. In this report, we describe the use of customized parascapular free flaps, after standard reconstructive surgeries, for the correction of defects of facial contour in Treacher Collins patients. In most cases, bony reconstruction of the zygoma or periorbita is not required. METHODS: From June 1995 to December 2003, 8 patients with Treacher Collins syndrome underwent microsurgical correction of facial contour using 16 free flaps. In all patients, staged parascapular free flaps were used for reconstruction. The microvascular technique involved a 2-team approach with simultaneous ipsilateral parascapular flap harvest and facial pocket dissection. The flaps were contoured, revascularized (14 superficial temporal vessels, 2 facial vessels), and inset. No vein grafts were used. The patients were followed for a minimum of 1 year, and postoperative evaluation included medical photography, visual assessment, and evaluation by the patient and family. RESULTS: Seven patients had previous facial skeleton correction using craniofacial techniques. The age at operation ranged from 4-19 years. Sixteen parascapular free flaps were used in the 8 patients. Postoperative complications were limited to 1 hematoma. There were no partial or total flap losses. All of the patients had improved facial contour and symmetry. Overlying skin tone and color similarly improved. CONCLUSION: After traditional skeletal reconstruction for the complex craniofacial defects of Treacher Collins syndrome, deficiencies in facial contour and symmetry usually persist. Customized soft-tissue free flaps can be employed to differentially resurface these defects and achieve optimal esthetic results in these challenging patients.     

Detailed morphometry of the nose in patients with Treacher Collins syndrome

Patients with Treacher Collins syndrome were studied regarding 10 nasal, 1 orbital, and 4 facial measurements as well as 10 facial proportion indexes. Data from 15 to 24 patients were related to normal values. The most normal feature was found to be the nose, whose basic measurements were optimal. Because harmony between the nose and the face is a basic requirement of aesthetic balance in a healthy face, the nose in these patients is the key for calculating changes in the markedly damaged general framework of the face. Abnormal proportion indexes must be corrected by adjusting the abnormal measurement to its optimal level. Thus, the abnormally short bizygomatic width had to be increased by a mean of 13 to 21 mm. Both the nose and the face were usually normal-long, producing acceptable proportions in these patients. Some size disproportions were found between the root and the soft nose. Their adjustment should be part of the general plan to correct the face of a patient with Treacher Collins syndrome.     

Waugh's syndrome: report of two cases

The association of intussusception and intestinal malrotation has been reported rarely in the literature. This association is called Waugh’s syndrome. The authors report 2 cases of Waugh’s syndrome and discuss diagnostic features and treatment methods.     

Successful intubation using a simple fiberoptic assisted laryngoscope for Treacher Collins syndrome

A fiberoptic-assisted laryngoscope (FLS) (Acoma Medical Industry Co. Ltd., Tokyo, Japan) is a modified Macintosh laryngoscope with a tubular holder into which a fiberoptic bronchoscope can be inserted. We present three cases of Treacher Collins syndrome whose tracheas were successfully intubated with the aid of the FLS. These cases suggest that the FLS may be a useful alternative in the case of difficult pediatric intubation.     

Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery

Eight males and 12 females (mean age, 12.2 years) with Treacher Collins syndrome were studied longitudinally before and after craniofacial reconstruction. The patients and the parents of the 16 patients who were children were interviewed by a psychosocial team (child psychiatrist, psychologist and social worker) 6 months before and 1, 2, 3 and 4 years after surgery. The patients' facial appearance (Hay's Rating Scale), intellectual ability (Wechsler scales), self-esteem (Piers-Harris Self-Concept Scale for Children) and adaptive functioning (DSM III) were measured. The findings indicate that while their intellectual ability was unchanged, their appearance, self-esteem and adaptive functioning improved, peaking 1 year postoperatively and levelling off at the 2- and 4-year postoperative assessments. The improvement in the patients' facial appearance seems to have a direct, positive influence, creating psychosocial and social benefits for them.     

Facial nerve palsy: a complication following anaesthesia in a child with Treacher Collins syndrome

We report a case of facial nerve palsy following anaesthesia in a child with Treacher Collins syndrome. Children in whom intubation is difficult may be at increased risk of this complication.     

Young's syndrome: report of two Japanese cases

Young's syndrome is characterized by azoospermia due to bilateral epididymal obstruction associated with chronic sinobronchial disease. We report two Japanese cases of Young's syndrome who were treated with microsurgical epididymovasostomy. The histopathology of the caput epididymis showed an obstruction at the most distal region of the ductuli efferentes. The incidence of Young's syndrome in patients with obstructive azoospermia was much lower for mongoloids than for Caucasians.