Cases reported "Syndrome"

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1/1455. Variable clinical expression of Holt-Oram syndrome in three generations.

    Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.
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keywords = dominant
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2/1455. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.

    The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.
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ranking = 11.005612519639
keywords = rickets
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3/1455. Cardiac involvement in proximal myotonic myopathy.

    Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.
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keywords = dominant
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4/1455. Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia.

    We report a surgically treated case of early infantile epileptic encephalopathy (EIEE) with suppression-bursts associated with focal cortical dysplasia. Tonic-clonic seizures followed by a series of spasms occurred about a hundred times a day at a few days of age. Interictal electroencephalogram (EEG) revealed a suppression-burst pattern that was predominant in the left hemisphere. magnetic resonance imaging (MRI) suggested focal cortical dysplasia in the left prefrontal area. Combination therapies with antiepileptic treatments showed only partial efficacy. The patient underwent lesionectomy at age 4 months, after which he gradually showed psychomotor development and a decrease of spasms to 0-2 series daily. In cases of EIEE with focal cortical dysplasia, surgical treatment may have beneficial effects on both psychomotor development and seizure control.
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keywords = dominant
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5/1455. Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome.

    A patient is described with a Dejerine-Sottas syndrome caused by a novel heterozygous Cys(98)Tyr mutation in the extracellular domain of the major peripheral myelin protein zero (P0ex). Homotypical interactions between P0ex tetramers of apposed extracellular faces of the Schwann cell membrane play a crucial part in myelin compaction. The amino acid change disrupts a unique disulphide bond that stabilises the immunoglobulin-like structure of P0ex and it is predicted to cause severe dehypomyelination through dominant negative effects on the wild type protein.
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keywords = dominant
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6/1455. signal transduction defects in growth hormone insensitivity.

    growth hormone (GH) insensitivity is a heterogeneous condition that can result from mutations within the GH receptor (GHR) and that can be inherited as both an autosomal recessive and a dominant trait. However, evidence from a small number of growth hormone binding protein (GHBP)-positive families indicates that their GH insensitivity is independent of GHR mutations. Two of these families appear to have distinct abnormalities in GH signal transduction. Studies suggest that one family (classic laron syndrome phenotype; designated family H) have a signalling defect close to the GHR, preventing activation of both the STAT and MAPK pathways, whereas the other family (less marked phenotype; family M) have a defect in activating MAPK but not the STAT pathway. The children studied here are specifically insensitive to GH and their defect must be exclusive to this signalling system. Thus, families with GHBP-positive GH insensitivity without GHR mutations are likely to be important models in which to study the specificity of GH signal transduction and the relationship between GH insensitive phenotype and signalling defect.
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ranking = 1
keywords = dominant
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7/1455. Larsen syndrome in two generations of an Italian family.

    This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome.
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ranking = 1
keywords = dominant
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8/1455. birt-hogg-dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology.

    The autosomal dominant inherited syndromes of Hornstein and Knickenberg (HKS), and Birt, Hogg and Dube (BHDS) are both characterized clinically by the overall spread of multiple flesh coloured papules of the skin. However, it is a matter of debate if colonic neoplasms (adenomas as well as adenocarcinomas) are associated findings in the HKS or rather in the BHDS. Furthermore, histological differences are said to exist between the skin lesions in the two syndromes: whereas perifollicular fibromas were described in the HKS, fibrofolliculomas and trichodiscomas were found in the BHDS. In the present study, we report on a father and his daughter in whom we initially diagnosed a BHDS. We then examined a greater number of the papular lesions in histologic sections cut vertically as well as horizontally to the epidermis. Our results indicate that the histologic differences between the skin lesions in the two syndromes are artificial ones, caused by interpretation of different sectioning planes, and that consequently HKS and BHDS are the same. Therefore, it is necessary to look for colonic polyps in the syndrome in question, regardless if one prefers the name HKS or BHDS for it.
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ranking = 1
keywords = dominant
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9/1455. A case of multiple sebaceous epithelioma: analysis of microsatellite instability.

    Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes.
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ranking = 1
keywords = dominant
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10/1455. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

    The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.
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ranking = 5
keywords = dominant
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