Cases reported "Chondrodysplasia Punctata"

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11/33. ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome).

    Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hunermann syndrome. We present two newborns with characteristic ichthyosiform erythroderma noted at birth. Radiographs demonstrated chondrodysplasia punctata in one patient. Although the x-ray performed at birth was negative in the other patient, sterol analyses of the keratotic scales were diagnostic for CDPX2. skin biopsies from both patients showed thick laminated orthokeratosis and prominent keratotic follicular plugs containing dystrophic calcification. We also retrospectively examined 20 cases of various types of ichthyosis seen over a 23-year period at our institution. Intracorneal calcium deposition was not seen in any of these cases. As demonstrated by our cases and review of the literature, dystrophic calcification in the keratotic plug is a distinctive histopathologic feature of Conradi-Hunermann-Happle syndrome in newborns and is not seen in other known forms of ichthyoses.
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ranking = 1
keywords = x-linked dominant, x-linked, dominant
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12/33. Analysis of mesenchymal cells derived from an chondrodysplasia punctuate patient and donors.

    Conradi-Hunermann syndrome (CDPX2) is X-linked dominant disorder appeared with aberrant punctuate calcification. The skeletal cells derived from the marrow stroma are active in maintaining the skeletal formation. We obtained mesenchymal stem cells from a patient with CDPX2 and studied the formation of colony forming unit-fibroblast (CFU-F) in vitro in comparison cells obtained from normal donors. Cultured cells were studied morphologically and subjected to gene expression analysis. Marrow stromal cells (MSC)-chondrodysplasia punctuate (CDP) cells from CDPX2 were identified by their mosaic morphology formed three phenotypically distinct types of CFU-F colonies. One type consisted of normal fibroblasts with developed cell body and cellular processes; the second type contained pathological small cells without processes; and the third type comprised of mixed cells. We compared gene expression by the MSC-CDP to cells from normal donors. transcription factors analyzed proliferation potential were similar in both normal and mixed colonies of MSC-CDP and similar to normal MSCs. The message expression for cytokines and extra cellular matrix (ECM) proteins revealed similar expression for biglycan, osteocalcin, and osteonectin, while IL-6, IL-11, and M-CSF mRNA levels were significantly higher in normal cells than in MSC-CDP. Mixed cells had elevated levels for IL-6 and M-CSF mRNA, but expressed IL-11 at the normal range. The studied genes were expressed at lower levels by the pathological (MSC-CDP) cells compared to normal ones. Hence, MSC-CDP was demonstrated to display abnormal morphology and transcription of several investigated genes. This study further illuminates the basis of the mosaic pattern of mesenchymal cells derived from a patient affected with CDPX2, and their gene expression involvement.
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ranking = 7.0328237780191E-5
keywords = dominant
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13/33. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome.

    Conradi-Hunermann-Happle syndrome, also known as X-linked dominant chondrodysplasia punctata (CDPX2), is characterized by skeletal abnormalities, cutaneous anomalies and cataracts. CDPX2 is caused by mutations in the emopamil-binding protein (EBP). We report two unrelated Thai female patients with clinically typical CDPX2, in which we discovered two novel and de novo frameshift mutations: 506-507delAG and 540-541delCC. This study demonstrates that EBP is the gene responsible for CDPX2 across different populations and extends the total number of confirmed mutations to 55.
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ranking = 7.0328237780191E-5
keywords = dominant
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14/33. chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

    chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are non-specific and have been seen in a wide variety of disorders including the zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin-K-epoxide-reductase deficiency, chromosome trisomies 18 and 21, the smith-lemli-opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46-X, der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic dna probe analysis was interpreted as showing that the translocation breakpoint was within the X-linked kallmann syndrome gene. We review a current classification of these disorders that includes 3 well-defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X-linked dominant type with presumed male lethality, and an X-linked recessive type that has only been described as part of a contiguous gene deletion syndrome.
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ranking = 7.0328237780191E-5
keywords = dominant
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15/33. X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.

    A family with Conradi-Hunermann syndrome was identified after a scaly, erythrodermic neonate was seen. Although examination of the female infant yielded no specific findings suggestive of the syndrome, her mother and maternal great-grandmother had features that allowed the diagnosis to be made. Only after 5 months did the streaky hyperkeratotic pattern characteristic of the syndrome develop in the child. family members bore other stigmata, including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs. The pattern of inheritance in this family is compatible with that of an X-linked dominant genodermatosis with variable expression. Histopathologic findings from skin biopsy specimens were psoriasiform rather than ichthyotic. Decreased peroxisomal enzyme activity was discovered on fibroblast cultures, linking this syndrome with other peroxisomal disorders. Treatment with oral bezafibrate and clofibrate, which are potential inducers of hepatic peroxisomes, did not result in clinical improvement. It is recommended that usage of the term chondrodysplasia punctata be restricted to the descriptive radiologic finding of stippled calcifications and that Conradi-Hunermann syndrome refer only to the disease described herein, which is transmitted as an X-linked dominant trait.
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ranking = 0.00042196942668115
keywords = dominant
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16/33. Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn.

    We report a newborn with some manifestations of chondrodysplasia punctata. Additional abnormalities were hydrocephalus, bilateral syndactyly of the fourth and fifth fingers and toes, absence of the middle phalanx of all toes, hypoplasia of the second and third phalanges of all fingers and cryptorchidism. This observation suggests that we are possibly dealing with a rare male case of X-linked dominant chondrodysplasia punctata.
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ranking = 0.00035164118890096
keywords = dominant
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17/33. chondrodysplasia punctata in an adult recognized as vitamin k antagonist embryopathy.

    A 32-year-old man with disproportionate short stature and striking facial dysmorphism came to genetic counseling as his wife was expecting their first child. In early infancy he had been diagnosed as having chondrodysplasia punctata, later regarded to be the autosomal dominant hereditary form. The expectant father was therefore convinced of a high risk of recurrence and vacillated between thoughts of taking his own life and of having his wife's pregnancy terminated. When his history revealed recurrent thromboses in his mother, treated with anticoagulants during pregnancy, her medical records of 1953 were located, and they disclosed that she had been treated with phenprocoumon (Marcoumar) from the 8th to the 12th and from the 13th to the 15th weeks of pregnancy. The patient has since become the father of a healthy son.
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ranking = 7.0328237780191E-5
keywords = dominant
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18/33. chondrodysplasia punctata. Report of two cases.

    chondrodysplasia punctata is a rare familial disorder characterized by punctate calcifications in the epiphyseal regions. The radiological picture is typical, but early diagnosis is important as the characteristic calcifications disappear within the first year of life. Three subtypes with different clinical, radiological, and hereditary characteristics have been separated. Detailed diagnosis is crucial for effective genetic counselling. However, the autosomal dominant Conradi-Hunermann type is very heterogeneous and a lethal nonrhizomelic subtype has been suggested as well. Two cases of chondrodysplasia punctata are presented to demonstrate the wide range of radiological appearances. One of the cases represents the Conradi-Hunermann type and the other may represent the lethal nonrhizomelic subtype of Conradi-Hunermann.
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ranking = 7.0328237780191E-5
keywords = dominant
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19/33. Lethal neonatal chondrodysplasias in the West of scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

    Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 /- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).
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ranking = 7.0328237780191E-5
keywords = dominant
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20/33. X-linked dominant chondrodysplasia punctata: a case report and family studies.

    Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi-Hunerman form. Clinico-genetic analysis of this latter form of CP uncovered a sub-group characterised by asymmetric involvement with linear or whorled skin patches of ichthyosiform erythroderma or atrophoderma, circumscribed cicatricial alopecia, asymmetrical cataracts and limb shortness. The mosaic pattern of the manifestations and the limitation of reported cases to females suggested an X-linked dominant gene which undergoes Lyonisation in the female and is lethal in the hemizygous male. We report on a family ascertained through a baby girl who had manifestations typical of the X-linked dominant form of CP and whose mother, 2 of 3 maternal aunts, and maternal grandmother all had less severe manifestations. The absence of male offspring for 3 generations and a history of 3 early miscarriages, along with the clinical variability in the affected females, provide further support for X-linked dominant inheritance of this disorder.
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ranking = 0.00056262590224153
keywords = dominant
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