1/16. trisomy 8 syndrome.trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.- - - - - - - - - - ranking = 1keywords = joint (Clic here for more details about this article) |
2/16. CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.- - - - - - - - - - ranking = 1keywords = joint (Clic here for more details about this article) |
3/16. cochlear implantation in a child with osteogenesis imperfecta.osteogenesis imperfecta (OI) is a hereditary disease of connective tissue and affects bone, dentine, sclera, joint, tendon, blood vessels, heart valves, and skin. Approximately 50% of the adult patients with OI have associated hearing impairment. To date, only three cases of cochlear implantation in adults with OI have been reported, but none in children. We present a case of cochlear implantation in a congenitally deaf 6-year-old boy with OI. The Nucleus 24 Contour device was successfully implanted using the suprameatal approach (SMA). At 6 months post-initial stimulation there was no evidence of non-acoustic nerve excitation (i.e. facial twitching) or discomfort, and significant progress in auditory abilities was manifested by open set word identification.- - - - - - - - - - ranking = 1keywords = joint (Clic here for more details about this article) |
4/16. deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait.- - - - - - - - - - ranking = 5keywords = joint (Clic here for more details about this article) |
5/16. shoulder abnormalities in association with branchio-oto-renal dysplasia in a patient who also has familial joint laxity.A patient with branchio-oto-renal dysplasia and associated shoulder abnormalities is presented. The combination of features makes discrimination from the oto-facial-cervical syndrome difficult. shoulder abnormalities should be regarded as a rare feature of the branchio-oto-renal syndrome.- - - - - - - - - - ranking = 4keywords = joint (Clic here for more details about this article) |
6/16. Congenital stapes fixation, symphalangism and syndactylia.An autosomal dominant hereditary syndrome is described consisting of congenital deafness, characteristic finger and toe deformities, with absence of the proximal interphalangeal joint together with syndactylia. The syndrome has been observed in 5 members of a Danish family, and the study confirms the autosomal dominant trait.- - - - - - - - - - ranking = 1keywords = joint (Clic here for more details about this article) |
7/16. Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.A 32-year-old black man was observed with osteosarcoma and multiple anomalies including deafness, hypopigmentation, cataracts, small head size, hypogonadism, and restricted joint mobility. The birth defects may comprise a new syndrome or combination of syndromes, of which the malignancy may be a part.- - - - - - - - - - ranking = 5keywords = joint (Clic here for more details about this article) |
8/16. Synovial chondromatosis of the temporomandibular joint with intracranial extension. Case report.The authors report the unusual presentation of an intracranial extension of synovial chondromatosis of the temporomandibular joint. The patient presented with a peripheral facial nerve paralysis and anacusis. Computerized tomography revealed the lesion, but fine-needle biopsy was inconclusive. craniotomy with removal of the tumor was performed, and pathological studies confirmed the diagnosis. The facial nerve dysfunction was thought to be secondary to direct neural compression.- - - - - - - - - - ranking = 5keywords = joint (Clic here for more details about this article) |
9/16. Morquio's disease and the hearing organ.Histopathologic evidence offered by a case of Morquio's disease and observed in the hearing organ showed widespread collagen damage, possibly initiated by the general hemorrhageous tendency, while the family history bore evidence of a genetic source. The clinical manifestations comprise striking dwarfism, beaking of the lumbar spine, sternal bulging, flaring of the rib cage, falt vertebrae, marked osteoporosis, prominent joints, semi-crouching stance, short nose. Roentgenograms showed retarded ossification.- - - - - - - - - - ranking = 1keywords = joint (Clic here for more details about this article) |
10/16. Oto-spondylo-megaepiphyseal dysplasia (OSMED).Four personal longitudinal observations and two cases from the literature are used to introduce the concept of oto-spondylo-megaepiphyseal dysplasia (OSMED). The condition may be recognized at birth. The main clinical findings are sensoneurinal deafness, enlarged 1st interphalangeal joints of the hands, relative short extremities with abnormally large knees and elbows but still normal total body length. In the second decade of life, backpain and decreased mobility of the joints may follow. 4/6 patients had a cleft palate. The diagnostic radiological findings are the big epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. The occurrence of OSMED in two sisters suggests an autosomal-recessive transmission. No biochemical anomaly could be detected.- - - - - - - - - - ranking = 2keywords = joint (Clic here for more details about this article) |
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