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1/676. Diprosopus (partially duplicated head) associated with anencephaly: a case report.

    Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion. ( info)

2/676. Delineation of two distinct 6p deletion syndromes.

    Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions. ( info)

3/676. Rare facial clefts: craniofacial anomalies.

    Craniofacial surgery is an integrated approach to correct anomalies that include a range of deformities in the growth of the cranium and facial bones. The goal of surgery is to achieve a maximum result with the best possible functional and aesthetic results with minimal scarring in the least amount of time. ( info)

4/676. tissue expansion in the reconstruction of Tessier craniofacial clefts: a series of 17 patients.

    Tessier craniofacial clefts are among the most surgically challenging examples of craniofacial dysmorphology. These clefts are characterized by hypoplasia of soft-tissue and skeletal elements throughout the three-dimensional extent of the cleft. Whereas bone grafting and craniofacial osteotomies have been successful toward correcting the underlying skeletal abnormalities, the ultimate success of these reconstructions has been limited by the deficiency of skin and soft tissue. This deficiency demands reconstruction ideally with tissue of like texture, consistency, and, especially in the face, color. Craniofacial tissue expansion was used toward reconstructing these facial clefts with like-quality tissue, allowing for tension-free reconstruction after osteotomy and bone grafting. Seventeen patients with Tessier craniofacial clefts underwent preoperative craniofacial soft-tissue expansion in the surgical management of their clefts. tissue expansion was used in the primary correction of facial clefts in eight patients, with nine patients undergoing expansion before secondary surgery. In this series, tissue expansion has evolved as an important element in overcoming the skin and soft-tissue deficiency associated with these clefts, allowing for tension-free closure and improved aesthetic results in these surgically challenging patients. ( info)

5/676. Mutchinick syndrome in a Japanese girl.

    We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe. ( info)

6/676. Intradiploic arachnoid cyst with extensive deformation of craniofacial osseous structures: case report.

    OBJECTIVE AND IMPORTANCE: A unique case of a large intradiploic arachnoid cyst involving craniofacial osseous structures is reported. CLINICAL PRESENTATION: The patient presented with a hard mass in the right frontal region, proptosis, and inferior globe displacement. Computed tomography revealed an intraosseous cyst of cerebrospinal fluid intensity with extension from the anterior cranial fossa to the infratemporal fossa. INTERVENTION: After resection of the cyst wall and closure of two small round dural defects, the involved craniofacial region was reconstructed. CONCLUSION: The medical history of the patient and the intraoperative observations support the contention that the cyst in the reported case was congenital in origin. The features concerned with diagnosis and pathogenesis of this rare entity are discussed. ( info)

7/676. Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.

    Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. The characteristic cephalometric finding in this patient was the unusually large upward slant of SN plane and a steep Ba-N plane. Though the patient presented with a class I skeletal pattern, both the maxilla and mandible were hypoplastic and retruded with respect to the cranial base. Other characteristic features regarding the mandibular morphology were a large FMA (37 degrees) and Sn-GoGn (44 degrees) angles, a large gonial angle (138 degrees), an increase in total anterior facial and lower anterior facial height. ( info)

8/676. Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.

    We report the cases of two unrelated patients with psychomotor retardation and craniofacial abnormalities, in whom cytogenetic studies have revealed a terminal deletion of chromosome 13 confirmed by fluorescence in situ hybridization (FISH). This del(13)(q33.2) is the smallest terminal deletion of the 13q reported so far. Interestingly enough, the serum level of coagulation factors VII and X, whose genes are located in 13q34, were reduced in both patients. These cases illustrate the difficulties in identifying precisely chromosome deletions and demonstrate that FISH techniques allow to obtain a more precise correlation between clinical phenotype and cytogenetic abnormalities. ( info)

9/676. Craniofacial distraction with a modular internal distraction system: evolution of design and surgical techniques.

    The present report summarizes the evolution of design for a modular internal distraction system that is applicable throughout the craniofacial region. Eleven patients (5 boys, 6 girls), whose ages ranged from 4 months to 10 years at the time of distraction, constitute the basis for this study. The clinical indications for distraction were exorbitism with corneal exposure (n = 1), obstructive sleep apnea (n = 4), tracheostomy decannulation (n = 1), severe maxillary hypoplasia with class III malocclusion (n = 3), severe vertical and sagittal maxillary deficiency with anophthalmia (n = 1), and relapse following frontoorbital advancement in a case of rare craniofacial clefting (n = 1). Twenty-two distraction devices were used in these 11 patients. Two initial prototypes were tested (prototype 1 = 8 devices; prototype 2 = 2 devices) until the modular internal distraction system (MIDS, Howmedica-Leibinger, Inc.) was developed (n = 12 devices). The craniofacial osteotomies used were Le Fort III (n = 4), monobloc (n = 3), mandibular (n = 3), Le Fort I (n = 2), and cranial (n = 1). The distraction distances ranged from 11 to 28 mm. One patient undergoing mandibular distraction developed transient swelling in the left mandibular region, which responded to antibiotics. There were no other complications. Depending on the age of the patient and the length of distraction, the distraction gap was allowed to consolidate from 6 weeks to 3 months. The devices were then removed on either an outpatient or a 23-hour-stay basis. The modular internal distraction system permits widespread application of easily customizable, buried distraction devices throughout the craniofacial region. ( info)

10/676. sinus pericranii. Report of a case and review of the literature.

    sinus pericranii is an unusual anomaly of venous drainage from intracranial to extracranial systems via the diploe of the skull. A case and its management are presented. The aetiology, various options regarding treatment and their indications are discussed, including various surgical techniques and interventional radiology. ( info)
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