Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Piergiorgio Franceschini"'
Autor:
Enrico Finale, Piergiorgio Franceschini, Cesare Danesino, Michelangelo Barbaglia, Andrea Guala
Publikováno v:
Pediatric Reports, Vol 10, Iss 2 (2018)
Rapunzel syndrome is a rare form of tricobezoar with a tail extending from the stomach into the small bowel; surgical removal is generally required. About 60 cases have been reported and described in the literature since 1968. We present the case of
Externí odkaz:
https://doaj.org/article/c6aa950ccb16476a971145ee6575d809
Publikováno v:
Scopus-Elsevier
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a letha
Autor:
M. Biagioli, R. Bianco, G. Bussi, G. F. Davi, Margherita Silengo, Piergiorgio Franceschini, M. Cavallo
Publikováno v:
Scopus-Elsevier
On decrit un nouveau-ne de sexe feminin avec un phenotype intermediaire entre le syndrome de Neu et le syndrome COFS. On discute l'hypothese selon laquelle les 2 affections representeraient des degres differents de gravite de la meme concertation aut
Autor:
Bassan Bin-Abbas, Annick Lecoq, Jean Jacques Robert, Jacques L. Michaud, Nick Shaw, R. Rooman, Céline Haton, Doris Taha, G. Mark Lathrop, Krishna M. Vattem, Ronald C. Wek, Marc Delepine, Bernard Zabel, A. Kemal Topaloglu, Piergiorgio Franceschini, Catherine Diatloff-Zito, Valérie Senée, Timothy Barrett, Cécile Julier, Marc Nicolino, Lynn A. Rainbow
Publikováno v:
Diabetes. 53:1876-1883
Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multis
Publikováno v:
American Journal of Medical Genetics Part A. :86-92
We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiolog
Autor:
Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
Publikováno v:
Nature Genetics, 35(4), 318-321. Nature Publishing Group
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in
Publikováno v:
American Journal of Medical Genetics. 98:330-335
We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy.
Autor:
Piergiorgio Franceschini, Andrea Guala, D. Licata, D. Franceschini, Lorenzo Genitori, G. Di Cara
Publikováno v:
American Journal of Medical Genetics. 90:265-269
We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly–cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtru
Autor:
Andrea Guala, D. Licata, Piergiorgio Franceschini, G. Di Cara, G. Ingrosso, D. Franceschini, M. Bianchi
Publikováno v:
American Journal of Medical Genetics. 86:174-179
We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rar