The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Sandra Y. Lin - One of the best experts on this subject based on the ideXlab platform.
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Severe tracheobronchial stenosis in the X-linked recessive form of Chondrodysplasia punctata.
Archives of otolaryngology--head & neck surgery, 2004Co-Authors: Matthew E. Wolpoe, Nancy Braverman, Sandra Y. LinAbstract:The X-linked recessive form of Chondrodysplasia punctata, characterized by Chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with Chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of Chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.
John Kingdom - One of the best experts on this subject based on the ideXlab platform.
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Chondrodysplasia punctata associated with maternal autoimmune diseases expanding the spectrum from systemic lupus erythematosus sle to mixed connective tissue disease mctd and scleroderma report of eight cases
American Journal of Medical Genetics Part A, 2008Co-Authors: David Chitayat, Sheila Unger, Sarah Keating, Dina J Zand, Teresa Costa, Elaine H Zackai, Earl D Silverman, George E Tiller, Stephen F Miller, John KingdomAbstract:Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993]. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and Costa et al. [1993]. Maternal systemic lupus erythematosis (SLE) and Chondrodysplasia punctata in two infants. Coincidence or association? 1st Meeting of Bone Dysplasia Society, Chicago, June 1993] which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. © 2008 Wiley-Liss, Inc.
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Chondrodysplasia punctata associated with maternal autoimmune diseases expanding the spectrum from systemic lupus erythematosus sle to mixed connective tissue disease mctd and scleroderma report of eight cases
American Journal of Medical Genetics Part A, 2008Co-Authors: David Chitayat, Sheila Unger, Sarah Keating, Dina J Zand, Teresa Costa, Elaine H Zackai, Earl D Silverman, George E Tiller, Stephen F Miller, John KingdomAbstract:Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993]. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and Costa et al. [1993]. Maternal systemic lupus erythematosis (SLE) and Chondrodysplasia punctata in two infants. Coincidence or association? 1st Meeting of Bone Dysplasia Society, Chicago, June 1993] which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling.
Leon A. Metlay - One of the best experts on this subject based on the ideXlab platform.
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Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
Obstetrics & Gynecology, 1994Co-Authors: David M. Sherer, Tamara Allen, Lonardo F, Leon A. MetlayAbstract:BACKGROUND Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hunermann syndrome) has previously been reported only following detection of overall limb shortening. CASE Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. CONCLUSION Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.
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Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata.
Obstetrics and gynecology, 1994Co-Authors: David M. Sherer, J C Glantz, T A Allen, F Lonardo, Leon A. MetlayAbstract:Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic Chondrodysplasia punctata (Conradi-Hünermann syndrome) has previously been reported only following detection of overall limb shortening. Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic Chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic Chondrodysplasia punctata is possible.
Matthew E. Wolpoe - One of the best experts on this subject based on the ideXlab platform.
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Severe tracheobronchial stenosis in the X-linked recessive form of Chondrodysplasia punctata.
Archives of otolaryngology--head & neck surgery, 2004Co-Authors: Matthew E. Wolpoe, Nancy Braverman, Sandra Y. LinAbstract:The X-linked recessive form of Chondrodysplasia punctata, characterized by Chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with Chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of Chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.
Sheila Unger - One of the best experts on this subject based on the ideXlab platform.
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Bone Dysplasias - Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations
Bone Dysplasias, 2018Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila UngerAbstract:This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, Chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, Chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
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Bone Dysplasias - Dysplasias with Predominant Metaphyseal Involvement
Bone Dysplasias, 2018Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila UngerAbstract:This chapter discusses metaphyseal eysplasias and explores metaphyseal Chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal Chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
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Chondrodysplasia and abnormal joint development associated with mutations in impad1 encoding the golgi resident nucleotide phosphatase gpapp
American Journal of Human Genetics, 2011Co-Authors: Lisenka E L M Vissers, Sheila Unger, Ekkehart Lausch, Ana Belinda Camposxavier, Christian Gilissen, Antonio Rossi, Marisol Del Rosario, Hanka Venselaar, Ute Knoll, Sheela NampoothiriAbstract:We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, Chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce Chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human Chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints.
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Chondrodysplasia punctata associated with maternal autoimmune diseases expanding the spectrum from systemic lupus erythematosus sle to mixed connective tissue disease mctd and scleroderma report of eight cases
American Journal of Medical Genetics Part A, 2008Co-Authors: David Chitayat, Sheila Unger, Sarah Keating, Dina J Zand, Teresa Costa, Elaine H Zackai, Earl D Silverman, George E Tiller, Stephen F Miller, John KingdomAbstract:Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993]. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and Costa et al. [1993]. Maternal systemic lupus erythematosis (SLE) and Chondrodysplasia punctata in two infants. Coincidence or association? 1st Meeting of Bone Dysplasia Society, Chicago, June 1993] which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. © 2008 Wiley-Liss, Inc.
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Chondrodysplasia punctata associated with maternal autoimmune diseases expanding the spectrum from systemic lupus erythematosus sle to mixed connective tissue disease mctd and scleroderma report of eight cases
American Journal of Medical Genetics Part A, 2008Co-Authors: David Chitayat, Sheila Unger, Sarah Keating, Dina J Zand, Teresa Costa, Elaine H Zackai, Earl D Silverman, George E Tiller, Stephen F Miller, John KingdomAbstract:Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993]. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and Costa et al. [1993]. Maternal systemic lupus erythematosis (SLE) and Chondrodysplasia punctata in two infants. Coincidence or association? 1st Meeting of Bone Dysplasia Society, Chicago, June 1993] which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling.