Cases reported "Abnormalities, Multiple"

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11/497. Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case.

    An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.
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keywords = dental
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12/497. Left bronchial isomerism, normal atrial arrangement and bronchomalacia mimicking asthma: a new syndrome?

    Three children who presented with steroid-resistant airflow obstruction are described. They all had bronchomalacia in the setting of a rare visceral arrangement, namely left bronchial isomerism with normal atrial arrangement. Imaging and, in two cases, a normal residual volume in the face of severe airflow obstruction were diagnostic pointers to a nonasthmatic cause of wheeze. Although the association of these abnormalities may be coincidental, together they may constitute a new clinical syndrome.
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keywords = dental
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13/497. Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.

    Results of repeated peripheral blood chromosome studies were normal in a boy with intrauterine growth retardation, short stature, moderate mental retardation, and multiple minor anomalies. At age 9 years it was recognized that the swirls of pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body asymmetry were suggestive of chromosomal mosaicism. Four skin biopsies were obtained under anesthesia during a dental procedure. All showed mosaicism for a normal cell line, a line with an extra chromosome 7, and a cell line with an extra small ring. In one biopsy, there was a fourth cell line with an extra chromosome 7 and the ring. fluorescence in situ hybridization (FISH) with a chromosome 7 paint confirmed trisomy 7 and the chromosome 7 derivation of the ring. This young man's intra-uterine and postnatal growth retardation is an aneuploidy effect, whereas his asymmetry reflects a mosaicism effect that should have aroused suspicion of tissue-limited mosaicism before the development of obvious Blaschkolinear skin pigmentary dysplasia.
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keywords = dental
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14/497. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

    A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.
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ranking = 6.0417373550429
keywords = fistula
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15/497. Rectal duplication.

    Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of selection of proper approach for treatment, this entity bears a special significance. The present case report deals with a female newborn who presented with imperforate anus and a rectovestibular fistula and a mass prolapsing at the introitus. Complete excision of the mass was carried out through the perineal approach and the child then underwent, a PSARP for the correction of the rectal anomaly. histology confirmed the mass to be a rectal duplication.
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ranking = 6.0417373550429
keywords = fistula
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16/497. Short colon variant.

    A one day old neonate with a short colon, associated exomphalos minor; bifid scrotum and ileovesical fistula is reported.
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ranking = 6.0417373550429
keywords = fistula
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17/497. H-type rectovaginal fistula associated with the Currarino triad.

    We describe a case of H-type rectovaginal fistula associated with the Currarino triad (anorectal stenosis, sacral defect, presacral mass). Presenting symptoms included passage of feces per vaginam, signs of intestinal subocclusion without perianal inflammation, left leg paresis and foul-smelling urine. An anterior sacral meningocele was repaired at the age of three months. At age 18 months the fistula was excised through a perineal approach after creation of a protective colostomy. Diagnostic and therapeutic aspects of this malformation are discussed.
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ranking = 36.250424130258
keywords = fistula
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18/497. Recurrent rectoneovaginal fistula caused by an incidental squamous cell carcinoma of the neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome.

    OBJECTIVE: Mayer-Rokitansky-Kuster-Hauser syndrome is a congenital malformation characterized by an absence of the vagina associated with a variable abnormality of the uterus and the urinary tract but functional ovaries. Surgical correction requires the creation of a neovaginal canal by the performance of a neovaginoplasty and an accurate long-term application of an artificial phallus phantom to avoid secondary shrinkage of the canal. Due to the chronic alteration of the posterior neovaginal wall, ulcers and consecutive fistulae may occur. We report the clinical course of a female who required surgical intervention for a rectoneovaginal fistula and developed a recurrence of the fistula due to one of the extremely rare squamous cell carcinomas of the neovaginal epithelium in order to show potential diagnostic and therapeutic features. METHOD: The systematic report of a case is presented. RESULT: Almost 13 years following the initial construction of a neovagina the patient developed a single-tract rectoneovaginal fistula. After surgical repair she represented with a recurrence due to a vast squamous cell carcinoma of the former operation site. Tumor en bloc resection was performed and currently (follow-up: 4 months) she has no signs of new tumor progression. CONCLUSION: Creation of a neovagina is the standard procedure for treating vaginal atresia or aplasia. Because of the long clinical course postoperatively, complications may occur. This report of a case of a malignant transformation in neovaginal epithelium shows the potential risk of malignancy and underlines the necessity of a close follow-up.
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ranking = 52.333898840343
keywords = fistula, dental
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19/497. Spondylocarpotarsal synostosis with ocular findings.

    We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition.
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keywords = dental
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20/497. Spondylocarpotarsal synostosis syndrome and cervical instability.

    Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss. The vertebral segmentation defects may involve noncontiguous areas of the cervical, thoracic, and lumbar spine. Odontoid hypoplasia was noted in two cases. We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3. This brings the number of well-documented cases of spondylocar- potarsal synostosis to 19, and is the first documenting cervical spine instability. Careful evaluation for this complication should be considered in other cases.
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keywords = dental
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