Cases reported "Syndrome"

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1/175. 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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ranking = 1
keywords = dwarfism
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2/175. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

    The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
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ranking = 0.0022450028891975
keywords = silver
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3/175. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.

    We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.
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ranking = 1.6666666666667
keywords = dwarfism
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4/175. Campomelic dwarfism.

    The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.
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ranking = 1.6666666666667
keywords = dwarfism
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5/175. 3-M syndrome: a prenatal ultrasonographic diagnosis.

    The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were on the fifth centile and the radius, ulna and humerus lengths were below the fifth centile. A second scan at 22 weeks showed slowing of growth of all long bones, with the femur, tibia, fibula, humerus, radius and ulna lengths further below the fifth centile. The pregnancy was terminated and postmortem examination confirmed the prenatal diagnosis. The differential diagnosis of skeletal dysplasias characterized by a slow growth of long bones is discussed and the conclusion reached that the detection of shortened long bones (below the fifth centile) is the only ultrasonographic finding of 3-M syndrome.
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ranking = 0.33333333333333
keywords = dwarfism
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6/175. 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).

    Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.
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ranking = 0.00056125072229938
keywords = silver
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7/175. Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.

    Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case.
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ranking = 0.33333333333333
keywords = dwarfism
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8/175. Russell-silver syndrome in a Nigerian infant with intrauterine growth retardation.

    Russell-silver syndrome (RSS) is a rare cause of pre-natal dwarfism, associated with recognizable dysmorphic features and limb asymmetry. The propositus was a term infant of unrelated Nigerian parents, whose 35-year-old mother had peri-conceptual haloperidol for schizophrenia. Anthropometric values suggested severe prenatal stunting in a term infant with asymmetric "head sparing" intrauterine growth retardation (IUGR). A syndromic consideration of Russell-silver dwarfism was subsequently predicated on the distinctive dysmorphic craniofacial features of a triangular facial profile with a broad forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism. Routine care of a small-for-gestational-age infant was pursued, but postnatal growth remained slow (despite adequate caloric provision) until a parent-pressured discharge at 4 weeks. His subsequent demise was said to have occurred "suddenly" 2 weeks post-discharge. Despite the limitations posed by the local paucity of modern investigative tools for genetic disorders, the current case report underscores the diagnostic reality of RSS in a non-white African population. While emphasizing the need for a high index of diagnostic suspicion for congenital malformations and syndromic causes of IUGR in the African sub-region, we suspect a possible etiologic association of haloperidol embryopathy with RSS in the current case. The characteristic features, differential diagnoses, etiologic postulates/current cytogenetic and molecular genetic findings of RSS are fully reviewed in the discussion.
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ranking = 0.66666666666667
keywords = dwarfism
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9/175. Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism.
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ranking = 2
keywords = dwarfism
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10/175. A family with Jeune syndrome.

    Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.
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ranking = 0.33333333333333
keywords = dwarfism
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