1/9. encephalocele as a late complication of cranial vault reconstruction in a patient with Crouzon's syndrome.encephalocele is a rare late complication of craniosynostosis repair. An undiagnosed nick to the dura is the etiology of this complication. It usually presents within a few months to years after repair. This case report describes a patient with Crouzon's disease who had a craniosynostosis repair as an infant and presents 22 years later with an encephalocele. The patient had a thorough physical exam, 2D, and 3D CT Scans as a preoperative workup. Surgical intervention included repair of the encephalocele, cranialization of the frontal sinus with bone grafting, and Lefort III osteomies for mid face advancement. The patient benefited from a two-team simultaneous approach between neurosurgery and Plastic Surgery. The patient also benefited from an aggressive one-stage repair of all her defects and deformities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Progressive postnatal craniosynostosis and increased intracranial pressure.Since its first description by Virchow in 1851, craniosynostosis has been known as a potentially serious condition resulting in premature fusion of skull sutures. Traditionally, craniosynostosis has been regarded as an event that occurs early in fetal development, resulting in a skull shape at birth that is determined by the suture or sutures involved. In recent years, a different form of craniosynostosis has been observed. patients initially come to the attention of physicians because they exhibit midface hypoplasia or occasionally hypertelorism. The affected individuals all have a normal skull shape and open sutures in infancy but develop multiple-suture craniosynostosis postnatally, ultimately requiring surgical correction. These cases are significant because, although the patients do not initially display the physical manifestations of craniosynostosis, they frequently develop increased intracranial pressure, which can have devastating consequences. Unless these patients are recognized and vigilant follow-up monitoring is instituted at an early age, permanent impairment can result. A retrospective chart review study was conducted, and patients with multiple-suture craniosynostosis who developed symptoms of increased intracranial pressure were selected. The patients were divided into two groups, namely, those with normal sutures and/or head shape at birth (progressive craniosynostosis) (n = 15) and those with abnormal head shapes at birth (classic syndromic craniosynostosis) (n = 12). Clinical and radiological findings typically used to monitor the development of increased intracranial pressure were reviewed for both groups and compared. In addition, mutational analyses were performed. All patients with progressive postnatal craniosynostosis demonstrated clinical, radiological, or ophthalmological evidence of increased intracranial pressure, requiring skull expansion. Those patients displayed papilledema, anterior fontanelle bulge, and thumbprinting more often than did the patients with classic craniosynostosis. Thirteen of 15 patients were given the clinical diagnosis of Crouzon syndrome, which raises the question of whether such patients represent a subset of patients with this syndrome. Mutational analyses for the patients with progressive craniosynostosis demonstrated that, of 13 patients tested, 11 had mutations in exon 7 or 9 of FGFR2, which is a common site of mutations in Crouzon syndrome. The traditional indications of increased intracranial pressure used to monitor patients with classic craniosynostosis can be used to monitor patients with progressive postnatal craniosynostosis, particularly anterior fontanelle bulge, papilledema, and thumbprinting. It is thought that regular monitoring of these characteristics may lead to earlier diagnosis and allow for surgical intervention before the development of undesirable outcomes. It is important for clinicians to be aware of this group of patients, because any delay in diagnosis and treatment can result in severe consequences for the patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/9. Craniofrontonasal dysostosis with deafness and axillary pterygia.Craniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. body image and the process of reconstructive surgery.Newer craniofacial operative techniques produce rapid changes in objective appearance and permit the study of body-image change. In 21 patients with either Crouzon's disease or Alpert's syndrome, a four-factor model of body-image development was applied that emphasizes cognitive growth, perception of body stimuli, stimuli from the environment in the form of comparison, and the response from others. Before a child is of school age, he has substantially defined his body image, therefore corrective surgery must be considered earlier. Although surgical intervention may produce significant objective physical change, there is not a correspondingly rapid change in body image. Four phases in the modification of body image are (1) the decision to undergo surgery, (2) the operative experience, (3) the immediate postoperative period, and (4) the reintegration stage. Recognition of this phasic process will help integrate care of these patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q ), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. Deletion short arm 18 and silver-russell syndrome.A 14-year-old boy presented with physical signs of the silver-russell syndrome. He further had low-set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caried, malaligment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. It is concluded that considering the previous findings of chromosome No. 18 aberrations in some patients with silver-russell syndrome such patients should always have chromosome examination made.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. Surgical reconstruction of patients with Crouzon's syndrome: a lifetime of needs.Crouzon's Syndrome is an inherited craniofacial deformity. Unfortunately, like with many other complex disorders, there is no quick fix. Treatment consists of numerous surgeries over a long period of time. nurses are crucial team members as they are best educated to balance the physical, psychosocial, and developmental needs of patients and families.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. Retrograde fibreoptic intubation in a child with Nager's syndrome.PURPOSE: The authors describe a retrograde fibreoptic technique for tracheal intubation in a micrognathic child with a tracheo-cutaneous fistula. CLINICAL FEATURES: A four-year-old child with Nager's syndrome presented for surgical closure of a tracheocutaneous fistula. A tracheostomy tube had been placed in the neonatal period for management of upper airway obstruction due to severe micrognathia. At 2 1/2 yr of age, after a successful mandibular advancement procedure, the tracheostomy was removed and the child allowed to breathe through the natural airway. Preoperative physical examination revealed an uncooperative child, unable to open her mouth due to limited temporo-mandibular motion. The child was first anaesthetized with ketamine, 70 mg im, then halothane by mask. The authors were unable to open the child's mouth sufficiently to allow rigid laryngoscopy. Attempts at oral and nasal fibreoptic intubation were unsuccessful. Ultimately, the authors were able to intubate nasally by passing an ultrathin Olympus LF-P laryngoscope under direct vision through the tracheocutaneous fistula in a cephalad direction, through the larynx and nasopharynx, then out the nares. An endotracheal tube was then advanced over the fibreoptic scope and positioned distal to the tracheocutaneous fistula. The surgical procedure was successfully accomplished and the trachea was extubated postoperatively without difficulty. CONCLUSION: Retrograde fibreoptic intubation may be an option for airway management of a select group of children who cannot be intubated by traditional techniques.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. Pyknodysostosis: hemangioma of the skull as a new finding.Pyknodysostosis is a rare sclerosing bone dysplasia syndrome with autosomal recessive inheritance. Here, we report a case of pyknodysostosis, with characteristic physical and radiological findings, but also with a hemangioma of the skull, as a non reported finding sofar.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |