Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Schinzel phocomelia syndrome"'
Publikováno v:
Clinical Genetics. 49:70-73
PubMedID: 8740915 This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::135773be2edfdce67a41a11afb323ba0
https://doi.org/10.1111/j.1399-0004.1996.tb04330.x
https://doi.org/10.1111/j.1399-0004.1996.tb04330.x
Autor:
Matteo Della Monica, Fortunato Lonardo, Daniela V Luquetti, Gioacchino Scarano, Giovanna Sabba
Publikováno v:
American Journal of Medical Genetics Part A. :3169-3174
Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f337a7b1b90f2427d5099e22b3d698
https://doi.org/10.1002/ajmg.a.31712
https://doi.org/10.1002/ajmg.a.31712
Autor:
Kelly Springell, Carmel Toomes, Sigmar Stricker, Jacquelyn Bond, Lihadh Al-Gazali, James J. Cox, G. Karbani, Sheila Scott, Rowena Stern, Saghira Malik Sharif, Stefan Mundlos, Emma Roberts, Dhavendra Kumar, Petra Seemann, E. Sherridan, Christopher Geoffrey Woods
Publikováno v:
American Journal of Human Genetics (Chicago, IL)
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c384ef500e967bb040147bbcc80d14b7
Autor:
Denise Horn, Stefan Mundlos
Publikováno v:
Limb Malformations ISBN: 9783540959274
Al-Awadi/Raas–Rothschild/Schinzel phocomelia syndrome (AARRS) and Fuhrmann syndrome are two conditions of a phenotypic spectrum caused by mutations in the same gene. Individuals with AARRS exhibit gross lower-limb and severe upper-limb anomalies. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dcc24dedc1e89c6dadd7a9ba6218004
https://doi.org/10.1007/978-3-540-95928-1_63
https://doi.org/10.1007/978-3-540-95928-1_63
Autor:
Kevin Ferguson, Susan R. Hintz, Frances Roche, H. Eugene Hoyme, Richard S. Olney, Ashima Madan
Publikováno v:
American Journal of Medical Genetics. 103:295-301
Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07d1f14556106792f2560f5c69a1eeac
https://doi.org/10.1002/ajmg.1560
https://doi.org/10.1002/ajmg.1560
Publikováno v:
Gene. 527(1)
Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f93029d3f8debf0beaa81ca7c3d0f0
https://pubmed.ncbi.nlm.nih.gov/23727605
https://pubmed.ncbi.nlm.nih.gov/23727605
Autor:
Livia Garavelli, Adriano Ferrari, Francesca Mari, Sandro Reverberi, Simonetta Rosato, Silvia Sassi, Anita Wischmeijer, Sheila Unger, Ekkehart Lausch, Bernhard Zabel, Andrea Superti-Furga, Chiara Gelmini
The Al-Awadi–Raas-Rothschild syndrome (AARRS; OMIM 276820) and the Fuhrmann syndrome (FS; OMIM 228930) are distinct limb malformation disorders comprising different degrees of limb aplasia or hypoplasia. In 2006, Woods et al. found different recess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d8b8d47644d4a076011d41229e46d6
https://hdl.handle.net/11380/649143
https://hdl.handle.net/11380/649143
Publikováno v:
American journal of medical genetics. Part A. (11)
Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b27d21810b0c9724920ba8a4a5f7cd5f
https://pubmed.ncbi.nlm.nih.gov/20949531
https://pubmed.ncbi.nlm.nih.gov/20949531
Publikováno v:
American journal of medical genetics. Part A. (3)
Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel (AA/RRS) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by aplastic/hypoplastic nails with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5468edb7002ab306a1e26a4dfeff43e
https://pubmed.ncbi.nlm.nih.gov/21344627
https://pubmed.ncbi.nlm.nih.gov/21344627
Autor:
Mohamed Momtaz, M. Elsherif
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 36:278-279
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04a182dd6387019cd51cdc7a6a4e0592
https://doi.org/10.1002/uog.8697
https://doi.org/10.1002/uog.8697