Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation.

Crouzon syndrome (CS) is the most common craniosynostosis syndrome and requires a comprehensive management strategy for the optimization of care and functional rehabilitation. This report presents a case series of 6 pediatric patients diagnosed with CS who were treated with distraction osteogenesis (DO) to treat serious functional issues involving severe orbital proptosis, an obstructed nasopharyngeal airway, and increased intracranial pressure (ICP). Three boy and 3 girls were 8 months to 6 years old at the time of the operation. The mean skeletal advancement was 16.1 mm (range, 10 to 27 mm) with a mean follow-up of 31.7 months (range, 13 to 48 months). Reasonable and successful outcomes were achieved in most patients as evidenced by adequate eye protection, absence of signs and symptoms of increased ICP, and tracheostomy tube decannulation except in 1 patient. Complications were difficult fixation of external stabilizing pins in the distraction device (n = 1) and related to surgery (n = 4). Although DO can be considered very technical and can have potentially serious complications, the technique produces favorable functional and clinical outcomes in treating severe CS.

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.

Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients.

The role of plastic surgeon in complex cephalic malformations. Our experience.

AIM: Our aim is focused on the field of action of plastic surgery in the cephalic malformation and on description of the surgical indications and techniques for their correction. MATERIAL OF STUDY: We looked at 27 patients from 2006 to 2012 with cephalic district deformities. All patients underwent surgical and rehabilitative treatments. RESULTS: After a median follow-up from one to five years, in most cases we reached both morphological and functional reconstruction, alone or in a surgical team together with other surgical disciplines. DISCUSSION: The correction of craniofacial malformations makes use of a surgical discipline particularly demanding, which must associate a basic surgical training with a learning techniques specific to the area and a knowledge of craniofacial malformation. CONCLUSIONS: The surgical treatment of craniofacial malformations can be seen only through a joint neurosurgical and plastic-maxillo-facial surgery, guided by knowledge of the malformation, under the close supervision of anesthetists and pediatricians. This surgery is not limited to remodel the morphology but has its bases on the recovery of the functions, maintained by rehabilitation treatment.