1/14. Cloverleaf skull anomaly with extreme orbitostenosis.A neonate presented with cloverleaf skull anomaly and severe proptosis requiring urgent cranioplasty to attain eyelid closure. Despite this, she experienced exposure keratitis and corneal perforations. A ventriculoperitoneal shunt was performed subsequently to relieve hydrocephalus, but respiratory problems eventually led to her death at 6 months. This case highlights the complexity of the problems encountered in the cloverleaf skull anomaly, and a brief review discussing its management is included. Despite improvements in treatment of this condition, the overall prognosis remains poor.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/14. A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.PURPOSE: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. methods: FISH and dosage-sensitive Southern blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. RESULTS: Four unrelated patients with a deletion of the TWIST gene were identified by Southern blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. CONCLUSION: FISH and dosage-sensitive Southern blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/14. Corneal ulcers in patients with Apert syndrome.morbidity from corneal ulcers is often severe in patients with Apert syndrome. These patients are at an increased risk of developing corneal ulcers because of the compromised corneal environment secondary to exophthalmos. During the past 6 years, three of five patients treated for Apert syndrome at our hospital have developed corneal ulcers. We present a case series discussing each patient, reasons for the development of ulceration, treatment, and outcomes. Morbidities in our group of patients included decreased visual acuity, opacified corneas, amblyopia, and blindness. Treatment is often difficult and complex. Therefore, an ophthalmologist should be an active team member in treating Apert patients.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/14. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/14. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.Pfeiffer syndrome is clinically and genetically heterogeneous. Three clinical subtypes have been delineated based on the severity of acrocephalysyndactyly and associated manifestations. Severe cases are usually sporadic and caused by a number of different mutations in exons IIIa and IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene. Mild cases are either sporadic or familial and are caused by mutations in FGFR2 or FGFR1, respectively. We report on two individuals with different novel de novo mutations in FGFR2. The first is a 17-year-old male who has a severe phenotype, within the spectrum of subtype 1 including severe ocular proptosis, elbow ankylosis, visceral anomalies, and normal intelligence. This patient was found to have a novel complex mutation at the 3' acceptor site of exon IIIc of FGFR2, denoted as C952-3 del10insACC. The other patient, a 2-year-old female, has a mild phenotype, typical of the classic subtype 1 including brachycephaly with coronal synostosis and hypertelorism. She was also found to have a mutation at the 3' acceptor site (the same splice site) of exon IIIc of FGFR2, a point mutation designated as 952-1G-->A. Speculation on the molecular mechanisms that cause severe and mild phenotypes is presented in relation to these two cases.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/14. "Cat's cradle" midfacial fixation in distraction osteogenesis after Le Fort III osteotomy.Distraction osteogenesis has provided a powerful technique for the treatment of severe midfacial hypoplasia. Skeletal fixation is a critical component of successful distraction osteogenesis. This is a report on the development of a new approach to bone fixation for distraction osteogenesis of the midface, based on circumferential suspension of the entire midfacial skeleton using surgical wires placed through the soft palate. This technique offers the advantages of (1) complete control of the attitude of the midface in terms of a precise dispersion of forces that can determine the desired pitch, yaw, and roll of this skeletal complex during the active phase of distraction, (2) being compatible with young children in the deciduous dentition stage because it obviates the need for rigid fixation devices on the maxillary lateral walls in the proximity of numerous dental follicles of the unerupted adult dentition, (3) actually serving as the instrument for posterior maxillary "lift" in cases of skeletal open bite malocclusions (frequently seen in the craniosynostoses), thereby allowing the clinician to determine the final occlusal and palatal planes and simultaneously close the open bite. An illustrative case of a 5(1/2)-year-old girl with Apert syndrome is presented wherein her ventilatory obstruction and ocular proptosis were significantly improved.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
7/14. Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components.Apert-Crouzon syndrome (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, syndactyly of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip. We report a 3 1/2-month-old infant with features of Apert syndrome, plus thoracic vertebral anomalies radiographically similar to those seen in spondylothoracic dysplasia, a condition in which block thoracic vertebrae with widely open neural arches and a fan-shaped thoracic cage are found. Our patient also had flared metaphyseal ends of humeri, dislocated radii with immobile elbows, an unusual tail-like protuberance in the coccygeal area, and a solid cartilaginous tracheal wall. To date, in ongoing reviews of radiographs of other patients with acrocephalosyndactyly or acrocephalopolysyndactyly complexes and of relevant literature, we have not identified other patients with these findings. The vertebrae and intervertebral discs of the patient in this report, three patients with Jarcho-Levin syndrome, and one with Apert syndrome were measured from anteroposterior chest radiographs; the findings clearly distinguish the condition in our patient from Jarcho-Levin syndrome or Apert syndrome.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/14. Lessons from a case of kleeblattschadel. Case report.The authors describe the clinical, radiological, and postmortem findings of a case of cloverleaf skull syndrome. The presence of hindbrain herniation, abnormal cervical segmentation, and atlantoaxial subluxation illustrate the anatomical complexity of the skull base and the craniocervical junction that may coexist in this condition. Unavoidable division of occipital emissary veins during elevation of the skin flap at the time of vault remodeling surgery led to an acute and, ultimately, fatal rise in intracranial pressure. Postmortem examination and review of magnetic resonance imaging revealed an anomalous pattern of venous drainage of the intracranial structures that appeared to have developed in response to venous obstruction, secondary to intraosseous venous sinuses and stenosis of the jugular foramina. The relationship between venous hypertension, hindbrain herniation, and hydrocephalus in this situation is reviewed, and the implications for evaluation and management of this vexing disorder are discussed.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/14. Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes.The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/14. Use of silastic sheet in Apert's syndactyly.patients with Apert's syndrome usually have severe complex syndactyly affecting both hands. Surgical separation of the distal digital bony fusion often exposes bone and cartilage which can cause problems with graft take. A case is presented where the bare divided bone between two digits was kept apart with a silastic sheet. On its removal 4 weeks later, the previously bare bone was covered with a membrane. This was covered with a full thickness skin graft with a complete graft take.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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