UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 11 von 55
Datensatz exportieren als...
BibTeX
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2652-2661
Krakow, Deborah
Cohn, Daniel H.
Wilcox, William R.
Noh, Grace J.
Raffel, Leslie J.
Sarukhanov, Anna
Ivanova, Margarita H.
Danielpour, Moise
Grange, Dorothy K.
Elliott, Alison M.
Bernstein, Jonathan A.
Rimoin, David L.
Merrill, Amy E.
Lachman, Ralph S.
2016
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Krakow, Deborah
Cohn, Daniel H.
Wilcox, William R.
Noh, Grace J.
Raffel, Leslie J.
Sarukhanov, Anna
Ivanova, Margarita H.
Danielpour, Moise
Grange, Dorothy K.
Elliott, Alison M.
Bernstein, Jonathan A.
Rimoin, David L.
Merrill, Amy E.
Lachman, Ralph S.
Titel
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
Ist Teil von
American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2652-2661
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Bent Bone Dysplasia‐FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer‐term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and perinatal death in three of 11 patients in the series. The survivors presented with characteristic radiographic findings that were observed among those with lethality, including bent bones, distinctive (moustache‐shaped) small clavicles, angel‐shaped metacarpals and phalanges, poor mineralization of the calvarium, and craniosynostosis. Craniofacial abnormalities, hirsutism, hepatic abnormalities, and genitourinary abnormalities were noted as well. Longer‐term survivors all needed ventilator support. Heterozygosity for mutations in the gene that encodes Fibroblast Growth Factor Receptor 2 (FGFR2) was identified in the nine individuals with available DNA. Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia–FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. © 2016 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37772
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5538138
Format
–
Schlagworte
Alleles
,
Amino Acid Substitution
,
bent bone dysplasia
,
Clavicle - abnormalities
,
craniosynostosis
,
Facies
,
Female
,
FGFR2
,
Finger Phalanges - abnormalities
,
Genotype
,
Humans
,
Male
,
Mutation
,
Osteochondrodysplasias - diagnosis
,
Osteochondrodysplasias - genetics
,
Phenotype
,
Pregnancy
,
Pregnancy Outcome
,
Prenatal Diagnosis
,
Radiography
,
Receptor, Fibroblast Growth Factor, Type 2 - genetics
,
Registries
,
skeletal dysplasia
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX