Search Results - "Lachman, RS"

Pachydermoperiostosis: an update by Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

“…Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an…”
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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome by Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S, Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E, Lachman, Ralph S, Nishimura, Gen, Grigelioniene, Giedre

“…is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in are associated…”
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Shwachman–Bodian–Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia by Levin, Terry L., Mäkitie, Outi, Berdon, Walter E., Lachman, Ralph S.

“…Shwachman–Bodian–Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a…”
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis by Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T

“…The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks,…”
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 by Tavormina, Patricia L, Shiang, Rita, Thompson, Leslie M, Zhu, Ya-Zhen, Wilkin, Douglas J, Lachman, Ralph S, Wilcox, William R, Rimoin, David L, Cohn, Daniel H, Wasmuth, John J

“…Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features…”
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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene by Briggs, M.D, Hoffman, S.M.G, King, L.M, Olsen, A.S, Mohrenweiser, H, Leroy, J.G, Mortier, G.R, Rimoin, D.L, Lachman, R.S, Gaines, E.S, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset…”
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Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review by Wallace, Stephanie E., Lachman, Ralph S., Mekikian, Pertchoui B., Bui, Kathy K., Wilcox, William R.

“…Progressive diaphyseal dysplasia (PDD) (Camurati–Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and…”
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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia by Lachman, Ralph S, Krakow, Deborah, Cohn, Daniel H, Rimoin, David L

“…This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing…”
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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum by Briggs, Michael D., Mortier, Geert R., Cole, William G., King, Lily M., Golik, Steven S., Bonaventure, Jacky, Nuytinck, Lieve, De Paepe, Anne, Leroy, Jules G., Biesecker, Leslie, Lipson, Mark, Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Knowlton, Robert G., Cohn, Daniel H.

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb…”
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Diagnostic value of radiography in cases of perinatal death: a population based study by Olsen, Ø E, Espeland, A, Maartmann-Moe, H, Lachman, R S, Rosendahl, K

“…Objective: To examine the yield of radiographic abnormalities in a population based set of perinatal deaths, the diagnostic value of whole body postmortem…”
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A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21 by BOYADJIEV, Simeon A, JUSTICE, Cristina M, EYAID, Wafaa, MCKUSICK, Victor A, LACHMAN, Ralph S, CHOWDRY, Arnab B, JABAK, Monzer, ZWAAN, Johan, WILSON, Alexander F, JABS, Ethylin Wang

“…We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including…”
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Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families by Savarirayan, Ravi, White, Susan M., Goodman, Frances R., Graham Jr, John M., Delatycki, Martin B., Lachman, Ralph S., Rimoin, David L., Everman, David B., Warman, Matthew L.

“…CDMP‐1, a cartilage‐specific member of the TGFß superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the…”
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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder by MORTIER, G. R, WEIS, M, NUYTINCK, L, KING, L. M, WILKIN, D. J, DE PAEPE, A, LACHMAN, R. S, RIMOIN, D. L, EYRE, D. R, COHN, D. H

“…Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the…”
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Hand involvement in Schmid metaphyseal chondrodysplasia by Elliott, Alison M., Field, Fiona M., Rimoin, David L., Lachman, Ralph S.

“…Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed…”
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The cervical spine in the skeletal dysplasias and associated disorders by Lachman, R S

“…The cervical spine is an especially important area, not only for the diagnosis of the skeletal dysplasias, but also for the management of the patient. By the…”
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Ossification sequence in infants who die during the perinatal period: population-based references by Olsen, Øystein E, Lie, Rolv T, Lachman, Ralph S, Maartmann-Moe, Helga, Rosendahl, Karen

“…To determine population-based references for the relationships between the presence of ossification centers and gestational age and skeletal length…”
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van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers by Schweitzer, Daniela N., Lachman, Ralph S., Pressman, Barry D., Graham, John M.

“…We describe two Hispanic brothers born to unrelated parents with van den Ende–Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic…”
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Differentiating campomelic dysplasia from Cumming syndrome by Watiker, Valerie, Lachman, Ralph S., Wilcox, William R., Barroso, Inês, Schafer, Alan J., Scherer, Gerd

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Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness by Agarwal, Vishal K., Lachman, Ralph S., Rimoin, David L., Wilcox, William R.

“…We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and…”
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Prenatal diagnosis of the skeletal dysplasias by Sharony, R, Browne, C, Lachman, R S, Rimoin, D L

“…We examined the accuracy of prenatal diagnosis of skeletal dysplasias and ways to refine this ability. A total of 226 fetuses and stillbirths referred for…”
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