Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.
Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; etiology ; therapy ; Genital Diseases, Male ; diagnosis ; etiology ; therapy ; Humans ; Lymphangiectasis, Intestinal ; diagnosis ; etiology ; therapy ; Lymphedema ; diagnosis ; etiology ; therapy ; Male ; Syndrome

OBJECTIVEThis study was to construct a geometric skull model with 3-dimension scanning and rapid-prototyping (RP) technology and also to evaluate the significance and further application of surgery simulation in the treatment of complex craniomaxillofacial malformation.

METHODSTwelve patients with complex craniomaxillofacial malformation were involved. The data obtained with CT scanning were transferred to a personal computer for surface rendering 3-dimension reconstruction. A geometric model was manufactured by selective laser sintering using rapid-prototyping device. Surgery simulation was performed both on the model and in the computer. Accordingly, a custom implant and an implant template, when needed, were constructed with the computer-aided design (CAD) and prefabricated with computer-aided manufacture (CAM) process.

RESULTSSurgery simulation made the operation shorter, the complications lower and the outcome better.

CONCLUSIONSSkull model provides great convenience in the treatment of cranio-maxillofacial malformation.

Adult ; Computer-Aided Design ; Craniofacial Abnormalities ; diagnostic imaging ; therapy ; Female ; Humans ; Image Processing, Computer-Assisted ; Imaging, Three-Dimensional ; Models, Anatomic ; Skull ; anatomy & histology ; Tomography, X-Ray Computed

OBJECTIVE: We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. METHOD: Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. RESULT: According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. CONCLUSION First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases without internal openings in the external auditory canal, CT fistulography should be done to demonstrate the courses, followed by corresponding treatment. Two special cases might be classified as a new type of lesions.
Adolescent ; Adult ; Branchial Region ; abnormalities ; Child ; Child, Preschool ; Craniofacial Abnormalities ; classification ; diagnosis ; therapy ; Female ; Head and Neck Neoplasms ; classification ; diagnosis ; therapy ; Humans ; Infant ; Male ; Middle Aged ; Pharyngeal Diseases ; classification ; diagnosis ; therapy ; Retrospective Studies ; Young Adult

OBJECTIVETo determine the antimicrobial effects of grape seed on peri-implantitis microflora.

METHODSThe grape seed extract was tested against peri-implantitis microflora most commonly found in craniofacial implants including reference strains of Staphylococcus aureus (S. aureus), Escherichia coli (E. coli), Candida albicans (C. albicans) and clinical strains of S. aureus, Klebsiella pneumonia (K. pneumonia) and Candida parapsilosis (C. parapsilosis) by disk diffusion test. Minimum inhibitory concentrations (MIC) and minimum cidal concentrations (MCC) were determined using modified agar dilution millpore method. The extract was further combined with polyethylene glycol and propylene glycol, and was tested for antimicrobial effects.

RESULTSGrape seed extract showed positive inhibitory effects with S. aureus at MIC of 0.625 mg/mL and MCC of 1.25 mg/mL respectively. However the extracts showed minimal or no reactivity against strains of E. coli, K. pneumonia, C. parapsilosis and C. albicans. The use of grape seed extract in combination with polyethylene glycol and propylene glycol also showed dose dependent inhibitory effect on S. aureus.

CONCLUSIONSThe results of the study showed that grape seed has potential antimicrobial effects which can be further studied and developed to be used in the treatment of infected skin-abutment interface of craniofacial implants.

Anti-Infective Agents ; pharmacology ; Bacteria ; drug effects ; Craniofacial Abnormalities ; surgery ; Disk Diffusion Antimicrobial Tests ; Grape Seed Extract ; pharmacology ; Humans ; Microbial Sensitivity Tests ; Prostheses and Implants ; adverse effects ; Prosthesis-Related Infections ; drug therapy ; microbiology

OBJECTIVE: We wanted to evaluate the safety and feasibility of ethanol sclerotherapy for treating craniofacial venous malformations (CVMs). MATERIALS AND METHODS: From May 1998 to April 2007, 87 patients (40 men and 47 women; age range, 2-68 years) with CVMs underwent staged ethanol sclerotherapy (range, 1-21 sessions; median number of sessions, 2) by the direct puncture technique. Clinical follow up (range, 0-120 months; mean follow up, 35 months; median follow up, 28 months) was performed for all the patients. Therapeutic outcomes were established by evaluating the clinical outcome of the signs and symptoms in all patients, as well as the degree of devascularization, which was determined on the follow-up imaging, in 71 patients. RESULTS: A total of 305 procedures with the use of ethanol were performed in 87 patients. Follow-up imaging studies were performed for 71 of 87 patients. Twenty-three (32%) of the 71 patients showed excellent outcomes, 37 patients (52%) showed good outcomes and 11 patients (16%) showed poor outcomes. Ethanol sclerotherapy was considered effective for 60 patients. All the minor complications such as bulla (n = 5) healed with only wound dressing and observation. Any major complication such as skin necrosis did not develop. CONCLUSION: Percutaneous ethanol sclerotherapy is an effective, safe treatment for CVMs.
Adolescent ; Adult ; Aged ; Analgesics/administration & dosage ; Anti-Infective Agents, Local/adverse effects/*therapeutic use ; Child ; Child, Preschool ; Craniofacial Abnormalities/*therapy ; Ethanol/adverse effects/*therapeutic use ; Feasibility Studies ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Pain/drug therapy/etiology ; Retrospective Studies ; Sclerosing Solutions/adverse effects/therapeutic use ; Sclerotherapy/adverse effects/*methods ; Treatment Outcome ; Vascular Malformations/*therapy ; Young Adult