Cases reported "Dwarfism"

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1/291. Long survival in thanatophoric dwarfism.

    A case of thanatophoric dwarfism living for 10 weeks with minimal supportive care is presented. Although early death is usual, survival for months is compatible with the diagnosis.
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2/291. prenatal diagnosis of dyssegmental dysplasia. A case report.

    BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.
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keywords = dwarfism
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3/291. Robinow syndrome with growth hormone deficiency: treatment with growth hormone.

    We describe a 5 years and nine months old boy who presented with facial features, vertebral anomalies and dwarfism consistent with Robinow syndrome. Investigations revealed growth hormone (GH) deficiency to be the cause of his dwarfism. We reviewed data on four other patients with Robinow syndrome from the Genentech National Cooperative Growth Study (NCGS). Results of GH testing on three out of four were available and showed GH deficiency. Recombinant human GH therapy in our patient and the three patients from the NCGS resulted in a significant increase in the growth rate per year. The cause of dwarfism in children with Robinow syndrome has hitherto not been studied. We propose its association with GH deficiency and that treatment with rhGH can result in a significant increase in the growth rate of these children.
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4/291. Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).

    We report a 19-year-old male with Seckel syndrome (bird-like dwarfism) who presents with malignant hypertension associated with hypertensive nephrosclerosis, dilated cardiomyopathy, and a ruptured cerebral artery aneurysm. Although end-organ injury due to chronic hypertension occurs frequently in adults, no previous reports of renal insufficiency due to hypertension exist in children or adolescents. We speculate that this patient may have been particularly prone to hypertensive end-organ injury due to his extreme short stature.
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5/291. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

    Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the disease gene to chromosome 9p13-q12 in four of five consanguineous AMDM families and its exclusion in a fifth family with two children affected with a mild form of the disease. This study suggests that genetic heterogeneity accounts for the variable clinical and radiological severity of AMDM.
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6/291. cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

    cartilage-hair hypoplasia (CHH) is a rare autosomal recessive short-limbed dwarfism associated with thin and sparse hair and cell mediated or combined immunodeficiency. However, the basis of immune deficiency in CHH is unclear. In this study, we investigated a role of apoptosis in immunodeficiency in a patient with CHH. An increased apoptosis of both CD4 and CD8 T cells, as determined by TUNEL assay, was observed in CHH compared to an age-matched healthy dwarf control. Increased apoptosis in CHH was associated with increased expression of Fas (CD95), CD95L, and Bax and decreased expression of Bcl-2 and inhibitor of apoptosis protein (IAP) compared to the control. These data suggest that lymphopenia and immunodeficiency in CHH may be, at least in part, due to increased apoptosis of T cells, possibly through the Fas/ FasL signaling pathway.
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keywords = dwarfism
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7/291. survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types.

    Torrance, San Diego, and Luton types ("West coast" types) of neonatal platyspondylic short-limbed dwarfism are suspected to be caused by dominant mutations that are obligatorily lethal. We report on an affected mother, who passed the disease to her daughter, confirming dominant disease transmission. survival of the mother indicates a wider phenotypic spectrum.
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8/291. 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 = dwarfism
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9/291. Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

    Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome with moderate to severe mental retardation and no previously identified brain abnormalities. We describe the seventh case and note dysgenesis of the corpus callosum in this patient.
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10/291. chondroitin 4- and 6-sulfaturia: a new type of inborn error of metabolism?

    A 14-year-old boy was found to excrete excessive amounts of acidic glycosaminoglycans which were predominantly chondroitin 4-sulfate and chondroitin 6-sulfate. Clinical features included dwarfism, mental retardation, coarse facies, deformities of the spine, hip joints and thorax, and granulations in leucocytes. The clinical and biochemical features found in this boy were compared with the known types of mucopolysaccharidosis and it has been concluded that this case is a new type of mucopolysacchariduria.
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keywords = dwarfism
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