Cases reported "Syndrome"

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11/1455. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.

    Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.
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12/1455. Bilateral granulosa cell tumor in a patient with blepharophimosis syndrome.

    blepharophimosis syndrome is a rare, autosominal, dominant ocular disorder and has been reported to be associated with ovarian dysfunction and premature menopause. We report a case of bilateral granulosa cell tumor associated with blepharophimosis syndrome. The combination of the long-term hypergonadotrophism and oocyte depletion associated with blepharophimosis syndrome may have contributed to the pathogenesis of the granulosa cell tumors. In female patients with blepharophimosis syndrome, close gynecologic surveillance should be instituted.
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13/1455. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.

    BACKGROUND AND OBJECTIVE: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder characterized by bilateral cataracts and increased serum and tissue L-ferritin, in the absence of iron overload. The deregulation of ferritin production is caused by heterogeneous mutations in the iron regulatory element (IRE) of L-ferritin that interfere with the binding of iron regulatory proteins. DESIGN AND methods: We have identified several patients from three unrelated Italian families with HHCS. Iron parameters were assessed by standard methods. The IRE element of L-ferritin was amplified by PCR using appropriate primers and directly sequenced. RESULTS: Ferritin levels ranged from 918 microg/L to 2490 microg/L in the patients studied. In one family bilateral cataracts were diagnosed early in life, whereas in the others cataracts were diagnosed around 40-50 years. The female proband of family 3 presented with a severe iron deficiency anemia, which was unrecognized because of the increased ferritin values. Sequencing of the IRE element of L-ferritin in the probands of the three families identified three different nucleotide substitutions ( 32 GAE A, 40 AAE G and 39 CT) in the IRE of L-ferritin. These mutations have already been reported in unrelated subjects of different ethnic origins. INTERPRETATION AND CONCLUSIONS: Our findings are consistent with recurrent mutations associated with HHCS and underline the importance of this syndrome in the differential diagnosis of unexplained hyperferritinemia. In addition, the findings highlight the role played by transferrin saturation in the diagnosis of iron deficiency in these patients.
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14/1455. Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

    BACKGROUND: Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial dysmorphism, and hand anomalies. methods AND RESULTS: A genome scan was performed with 46 members of 2 unrelated families in which the disease was fully penetrant but the phenotype differed. Significant linkage was achieved with several polymorphic dna markers mapping to chromosome 6p12-p21 (maximal 2-point lod score of 8.39 with D6S1638 at theta=0.00). Haplotype analysis identified recombinant events that defined the Char syndrome locus with high probability to a 3. 1-cM region between D6S459/D6S1632/D6S1541 and D6S1024. CONCLUSIONS: A familial syndrome in which PDA is a common feature was mapped to a narrow region of chromosome 6p12-p21. Additional analysis with other families and polymorphic markers as well as evaluation of potential candidate genes should lead to the identification of the Char syndrome gene, which will provide insights into cardiogenesis as well as limb and craniofacial development.
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15/1455. Autosomal dominant muscle cramp syndrome in a Japanese family.

    OBJECTIVES: To identify the clinical, electrophysiological, histological, and genetic characteristics of a Japanese family with a muscle cramp syndrome. methods: Fourteen patients (eight men, six women) were studied in four generations of a single family. Electrophysiological examinations were performed in four cases and muscle and nerve biopsies were performed on the propositus. RESULTS: The mode of inheritance seemed to be autosomal dominant. The cramps occurred during both exertion and at rest, and during sleep. Electromyographic examination indicated a neurogenic aetiology. There was a decreased number of large myelinated fibres in the sural nerve, and fibre type grouping in the quadriceps femoris muscle biopsy. CONCLUSIONS: The autosomal dominant muscle cramp syndrome in this family is probably caused by a polyneuropathy.
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16/1455. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus.

    Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract. About 80 cases have been reported, predominantly in females. We present a female newborn with typical features of the syndrome associated with megaesophagus.
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17/1455. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.

    Cantu syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantu syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.
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18/1455. Sporadic case of trichorhinophalangeal syndrome type III in a European patient.

    Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagai et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.
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19/1455. andersen syndrome autosomal dominant in three generations.

    andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long qt syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome.
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keywords = dominant
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20/1455. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.

    The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene.
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keywords = dominant
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