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Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.
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PMID:Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: autosomal recessive entity? 955 90

Muscle spindles are skeletal muscle sensory organs that provide axial and limb position information (proprioception) to the central nervous system. Spindles consist of encapsulated muscle fibers (intrafusal fibers) that are innervated by specialized motor and sensory axons. Although the molecular mechanisms involved in spindle ontogeny are poorly understood, the innervation of a subset of developing myotubes (type I) by peripheral sensory afferents (group Ia) is a critical event for inducing intrafusal fiber differentiation and subsequent spindle formation. The Egr family of zinc-finger transcription factors, whose members include Egr1 (NGFI-A), Egr2 (Krox-20), Egr3 and Egr4 (NGFI-C), are thought to regulate critical genetic programs involved in cellular growth and differentiation (refs 4-8, and W.G.T. et al., manuscript submitted). Mice deficient in Egr3 were generated by gene targeting and had gait ataxia, increased frequency of perinatal mortality, scoliosis, resting tremors and ptosis. Although extrafusal skeletal muscle fibers appeared normal, Egr3-deficient animals lacked muscle spindles, a finding that is consistent with their profound gait ataxia. Egr3 was highly expressed in developing muscle spindles, but not in Ia afferent neurons or their terminals during developmental periods that coincided with the induction of spindle morphogenesis by sensory afferent axons. These results indicate that type I myotubes are dependent upon Egr3-mediated transcription for proper spindle development.
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PMID:Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3. 973 39

We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. Fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both.
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PMID:Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility. 1021 43

Systematic, prospective data regarding phenotypic features, including echocardiographic findings, in pediatric patients with the Marfan syndrome are lacking. In addition, limited and conflicting information exists regarding the impact of pharmacologic therapy on aortic growth rate in children. Fifty-three children and adolescents with the Marfan syndrome underwent physical examination, anthropometric evaluation, and echocardiography. The relation of pharmacologic therapy to aortic growth rate was examined in the 44 subjects in whom serial echocardiograms were recorded. Although boys and girls did not differ in ocular, skeletal, or cardiovascular manifestations, aortic dilatation tended to be more common in boys (86% vs 72%). Children with aortic dilatation at baseline (42 of 53 or 79%) were more likely to also have scoliosis and mitral prolapse (both p <0.005). The medicated patients had slower aortic growth than the unmedicated patients with regard to both absolute aortic growth rate (p <0.01) and aortic growth rate adjusted for age and body size (p <0.005). Nevertheless, major cardiovascular complications developed in 5 patients despite long-term pharmacologic therapy. In conclusion, beta-blocker and calcium antagonist therapy retards aortic growth rate in children and adolescents with the Marfan syndrome.
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PMID:Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. 1023 96

Cohen syndrome (MIM no. 216550) is an autosomal recessive disorder with a typical clinical picture. Since the first report, most publications have represented single case reports. In this study, our aim was to describe cardiac, endocrine and radiological abnormalities in 22 Cohen patients of Finnish descent. Detailed investigations of the heart revealed the anatomy of the heart to be normal with no evidence for clinically significant mitral prolapse. However, a decreased left ventricular function with advancing age was identified. No significant endocrine abnormalities were found at the examination of pituitary, adrenal and thyroid function. The height was either normal or patients were moderately short (mean height standard deviation score (SDS) - 2) at all ages, associated, however, often with the marked kyphosis. Truncal obesity was seen in 4/22 patients. X-rays of the chest, lumbar and thoracic spine, long bones, ankles and metacarpophalangeal pattern profiles revealed kyphosis, scoliosis and calcaneo planovalgus as common features. Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile.
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PMID:Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. 1046 16

Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial duplication of the short arm of chromosome 20, owing to a cryptic balanced translocation in his father. The karyotype of the father was 46XY,t(13;20)(q34;p13). The propositus presented with severe mental and growth retardation, microcephaly, facial anomalies including ptosis of the right upper eyelid, a high nasal bridge, small palpebral fissures, and bilateral epicanthus, hypospadias, and scoliosis. A younger brother died at birth and had a low birth weight, hypospadias, and a horseshoe kidney. Repeated chromosome analyses with high resolution banding in the propositus and his parents were apparently normal. Chromosome painting eventually disclosed the cryptic translocation in the father with unbalanced karyotype in the propositus. The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized.
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PMID:Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding. 1049 96

Duplication of a portion of Xq has been observed in males with abnormalities. In some cases, their mothers or even grandmothers had the same duplication but did not show any phenotypic abnormalities. However, a few cases of females with a de novo Xq duplication do present some abnormalities. We describe a 16-month-old girl with short stature, motor delay with hypotonia, scoliosis, right hemiatrophy, and ptosis of the right eye, with an Xq duplication. The duplicated region is read dir dup(X)(q22.1q25).
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PMID:De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. 1058 34

Postoperative infection remains a troublesome but not uncommon complication after spinal surgery. Most previous reports, however, are small or involve cases with more than one surgeon often at different institutions. This study represents a single surgeon's 9-year experience with postoperative infection at one institution. The authors describe the features of wound infection after spinal surgery with reference to diagnosis, microbiology, and treatment and they describe a protocol for effective management of postoperative spinal wound infection. The records of the senior author (F.P.C.) during a 9-year period for cases of postoperative wound infection were reviewed. Of 2,391 operative procedures, 46 cases of wound infection were identified, yielding an overall infection rate of 1.9%. Patients' preoperative risk factors, original diagnosis prompting the surgery, onset of infection, presentation, treatment, and outcome were analyzed. The mean age of the 23 men and 23 women was 57.2 years. The preoperative diagnoses included lumbar degenerative scoliosis or spinal stenosis in 28 cases, disk prolapse in 8 cases, metastatic disease in 4 cases, degenerative disk disease in 1 case, and a group of 5 miscellaneous cases. Seventeen (37%) of the patients underwent at least one previous spinal surgery at the same site. Twenty-three patients had a fusion, of whom 22 also had instrumentation. Forty-three (93%) of the patients had significant wound drainage after an average of 15 days (range, 5-80 days). The other three patients were examined approximately 2 years after the surgery. Fourteen of the patients also had pyrexia (temperature >37.5 degrees C) at presentation. Staphylococcus aureus alone was cultured in 29 patients, whereas another six patients had a different single organism. In nine patients, more than one organism was cultured during their hospital stay. Surgical treatment included primary closure in only seven patients, with most undergoing wound drainage and debridement followed by delayed closure. Instruments were removed in the three patients with late presentation who had solid fusion at operation. Viable bone graft and instrumentation were left in situ in all patients who were seen before fusion. All wounds healed without sequelae, except for three that required flap closure. Pseudarthrosis was noted in three patients after more than 1 year of follow-up in this series. Postoperative spinal wound infection is a potentially devastating problem. In this series, infection was more common in patients undergoing fusion with instrumentation and in patients with cancer metastatic to the spine. An aggressive surgical approach, including repeated debridement followed by delayed closure, is justified. Instrumentation may be safely left in situ to provide stability for fusion.
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PMID:Postoperative spinal wound infection: a review of 2,391 consecutive index procedures. 1105 52

Ia afferents induce the formation of muscle spindles prenatally and maintain them postnatally. To address whether spindles, in turn, regulate the function of Ia afferents, we examined Egr3-null mutant mice (Egr3-/-), in which muscle spindles degenerate progressively after birth. Egr3-/- mice develop gait ataxia, scoliosis, resting tremors, and ptosis, suggesting a defect in proprioception. Despite the normal morphological appearance of peripheral and central sensory projections, we observed a profound functional deficit in the strength of sensory-motor connections in Egr3-/- mice. Muscle spindles in Egr3-/- mice do not express NT3. Intramuscular injections of NT3 to Egr3-/- mice during the postnatal period restored sensory-motor connections. Thus, NT3 derived from muscle spindles regulates the synaptic connectivity between muscle sensory and motor neurons.
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PMID:Muscle spindle-derived neurotrophin 3 regulates synaptic connectivity between muscle sensory and motor neurons. 1197 28

Severe mental retardation, congenital contractures, short stature, microcephaly, ptosis, myopia, beaked nose, abnormal teeth, hip dislocation, and severe scoliosis, are described in a 16-year-old and an unrelated 24-year-old females. Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed.
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PMID:Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? 1215 Feb 11


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