1/14. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn.We describe an unusual case involving the simultaneous occurrence of segmental neurofibromatosis (Type V NF) in a patient with a large nevus sebaceus of Jadassohn in the same physical distribution. Causative mechanisms of development of these 2 genetic disorders have not been definitively linked. Factors producing these diseases probably involve similar tissues at the same point in development because both have been reported in association with central nervous system anomalies and have been classified among the neurocutaneous syndromes. This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/14. diagnosis and management of positional head deformity.In children with positional head deformity (posterior plagiocephaly), the occiput is flattened with corresponding facial asymmetry. The incidence of positional head deformity increased dramatically between 1992 and 1999, and now occurs in one of every 60 live births. One proposed cause of the increased incidence of positional head deformity is the initiative to place infants on their backs during sleep to prevent sudden infant death syndrome. With early detection and intervention, most positional head deformities can be treated conservatively with physical therapy or a head orthosis ("helmet").- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
3/14. Fibrous dysplasia of the face: utility of three-dimensional modeling and ex situ malar recontouring.A 20-year-old male with fibrous dysplasia involving the right fronto-orbital and malar regions showed no significant progression of disease by serial computed tomography (CT) scans over 6 years. Two prior attempts to recontour the right maxilla and zygoma in situ and to increase the right orbital volume had been unsatisfactory. To solve the problem of persistent right-sided proptosis and facial asymmetry, a three-dimensional model of the midface and orbits was made on the basis of a pre-operative CT scan. Removable components transformed the model of the affected right side of the midface into a mirror image of the unaffected side, giving a precise indication of where and how much bone needed to be removed. Surgical correction was performed using a right malar osteotomy in which the zygoma was mobilized in continuity with the lateral and inferior orbital rims. This approach gave direct access to the orbit, through which the lateral and medial orbital walls were re-contoured to increase intraorbital volume. The freely mobilized zygoma was then shaped to match the prefabricated model. The zygoma was repositioned, and the affected maxilla was recontoured to blend with the remodeled zygoma. Follow-up CT scan and physical examinations postoperatively demonstrate excellent facial symmetry and correction of right-sided proptosis. When there is no documented progression of fibrous dysplasia in the face over several years, three-dimensional modeling as a guide to ex situ malar recontouring can improve the accuracy of facial reconstruction. This approach also provides direct access to the orbit for the correction of bony orbital volume.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
4/14. oral manifestations during chemotherapy for acute lymphoblastic leukemia: a case report.A 14-year-old, male patient was referred for the treatment of mucositis, idiopathic facial asymmetry, and candidiasis. The patient had been undergoing chemotherapy for 5 years for acute lymphoblastic leukemia. He presented with a swollen face, fever, and generalized symptomatology in the mouth with burning. On physical examination, general signs of poor health, paleness, malnutrition, and jaundice were observed. The extraoral clinical examination showed edema on the right side of the face and cutaneous erythema. On intraoral clinical examination, generalized ulcers with extensive necrosis on the hard palate mucosa were observed, extending to the posterior region. Both free and attached gingivae were ulcerated and edematous with exudation and spontaneous bleeding, mainly in the superior and inferior anterior teeth region. The tongue had no papillae and was coated, due to poor oral hygiene. The patient also presented with carious white lesions and enamel hypoplasia, mouth opening limitation, and foul odor. After exfoliative cytology of the affected areas, the diagnosis was mixed infection by candida albicans and bacteria. Recommended treatment was antibiotics and antifungal administration, periodontal prophylaxis, topical application of fluor 1.23%, and orientation on and control of proper oral hygiene and diet during the remission phase of the disease.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
5/14. Os parietale divisum.Divisions of the parietal bone are extraordinarily rare, and have been described previously only in skull specimens in the anatomical literature. We report a case of os parietale divisum (divided parietal bone) in an infant with plagiocephaly. A 36-weeks gestation male with multiple congenital anomalies presented to the deformational plagiocephaly clinic at 11 weeks of age. CT imaging demonstrated a suture dividing the left parietal bone into two segments. He had a plagiocephalic appearance, with the greater occipital and parietal protuberances ipsilateral to the abnormal left parietal suture, and a correspondingly flatter right occiput. head circumference was in the normal range, and the anterior fontanelle was patent and of normal size. He had mild right-sided right frontal and malar protuberance. Mandibular asymmetry was noted with a chin-point to the right of midline. He had a left-sided head tilt. He was treated with cranial molding helmet therapy for his head shape and physical therapy for his head tilt. After 16 months of helmet therapy, he had little improvement of his head shape. This case is an in vivo presentation of a rare variant, os parietale divisum.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
6/14. Dislocation of the mandibular condyle into the middle cranial fossa.Dislocation of the mandibular condyle into the middle cranial fossa is an uncommon event. A case report is presented based on a patient (32-year-old female) who sustained a traumatic left condyle fracture with superior dislocation into the middle cranial fossa due to a high-speed car accident. The diagnosis was done four months after trauma. Via a preauricular approach, left condylectomy and transposition of temporal muscle flap was performed. Postoperatively, the patient stayed for two weeks with intermaxillary fixation and four months of physical therapy.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
7/14. Familial malignant osteopetrosis in children: a case report.The clinical, radiological, pathological and laboratory findings of two brothers with autosomal recessive malignant osteopetrosis are presented. Our findings are similar to characteristics previously reported in the literature about patients with osteopetrosis. The 6-year-old male patient was pale and had petechiae on his arms and legs. He also had macrocephalia, splenomegaly, severe pancytopenia, genu valgus, hypocalcemia, amaurosis, cessation of physical development, generalized bone sclerosis and recurrent infections with a history of multiple incidences of acute otitis media. Generalized bone sclerosis and irregular sclerosis of the maxilla and mandible were seen on radiographs. The oral mucosa was apparently normal but permanent tooth eruption was delayed although there was early loss of deciduous teeth. The recommended treatment was blood transfusion and therapy with antibiotics when necessary; a bone marrow transplant was not possible due to lack of a compatible donor.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
8/14. A case of unilateral coronal synostosis in a child with craniofacial microsomia.Craniofacial microsomia is a congenital malformation complex associated with a wide array of craniofacial and extracraniofacial anomalies. Frontal plagiocephaly has been shown to occur in approximately 5% to 12% of patients with craniofacial microsomia. The etiology of craniofacial microsomia-associated frontal plagiocephaly is unclear; of the cases described in the literature, all but one had physical findings suggestive of deformational plagiocephaly. In the case with equivocal physical findings, radiographic studies showed no evidence of craniosynostosis. Unlike the above cases, we report a documented case of radiologically-confirmed unilateral coronal synostosis in a child with craniofacial microsomia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/14. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
10/14. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
| | Next -> |