Zobrazeno 1 - 10
of 46
pro vyhledávání: '"femoral hypoplasia‐unusual facies syndrome"'
Autor:
Lauren M. Partyka
Publikováno v:
Clinical Case Reports, Vol 11, Iss 7, Pp n/a-n/a (2023)
Key Clinical Message Femoral hypoplasia‐unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in pati
Externí odkaz:
https://doaj.org/article/98dbf31109ae42ceb3c304414f163590
Autor:
C. Cabrera GarcÁa, L P Obreros Zegarra, B. Vega Guedes, R. Garcia Delgado, M. Medina Castellano, J.A. García Hernández, Y. Emergui Zhrizen, R. Garcia Rodriguez
Publikováno v:
Clinical and Experimental Obstetrics & Gynecology. 46:131-135
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a1e3b20cf0c3e2957c845bfdba1ad71
https://doi.org/10.12891/ceog4329.2019
https://doi.org/10.12891/ceog4329.2019
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Journal of Bangladesh College of Physicians and Surgeons. 33:229-231
The femoral hypoplasia-unusual facies syndrome (FH-UFS) is a very rare association of femoral and facial abnormalities. We report a 19 days old male baby with bilateral femoral hypoplasia and cranio-facial dysmorphism including low set ears, upslante
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2584622b7e7b4f479af5dbb610b78a44
https://doi.org/10.3329/jbcps.v33i4.28148
https://doi.org/10.3329/jbcps.v33i4.28148
Publikováno v:
Journal of Pediatrics & Neonatal Care. 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3dbb478d499d2fb34b751d0beae60813
https://doi.org/10.15406/jpnc.2017.06.00228
https://doi.org/10.15406/jpnc.2017.06.00228
Autor:
Harold Chen
Publikováno v:
Atlas of Genetic Diagnosis and Counseling ISBN: 9781461464303
Atlas of Genetic Diagnosis and Counseling
Atlas of Genetic Diagnosis and Counseling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afd11456eb17e9f278c16ce9be0eeb11
https://doi.org/10.1007/978-1-4939-2401-1_89
https://doi.org/10.1007/978-1-4939-2401-1_89
Autor:
Begum Sharifun Naher
Publikováno v:
Bangladesh Journal of Child Health. 38:48-50
DOI: http://dx.doi.org/10.3329/bjch.v38i1.20028 Bangladesh J Child Health 2014; VOL 38 (1) : 48-50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30862a6faa165510ac0cbfaafb0aa53e
https://doi.org/10.3329/bjch.v38i1.20028
https://doi.org/10.3329/bjch.v38i1.20028
Publikováno v:
International Journal of Contemporary Pediatrics. 6:227
Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c73f2b00a561e39b512e86e0e32e0257
https://doi.org/10.18203/2349-3291.ijcp20185217
https://doi.org/10.18203/2349-3291.ijcp20185217
Autor:
Miguel A. Barber, Idoya Eguiluz, Cecilia Figueroa, Jose Ángel García-Hernández, Maria De Luis, Walter Plasencia, Leonor Valle
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 22:936-939
The femoral hypoplasia - unusual facies syndrome is a rare disorder, which was described first three decades ago. It is characterised by the occurrence of short femurs with certain associated alterations mainly affecting the face, of which micrognath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b300c113e05e99b00028409c8136541e
https://doi.org/10.1080/14767050902994606
https://doi.org/10.1080/14767050902994606
Autor:
Joan Lord, Peter Beighton
Publikováno v:
Clinical Genetics. 20:267-275
Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH-UFS). We believe that the FH-UFS represents the end of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e6ea28ac8c2bbf2512c6685a1de4da
https://doi.org/10.1111/j.1399-0004.1981.tb01032.x
https://doi.org/10.1111/j.1399-0004.1981.tb01032.x