Results 81 to 90 of about 66,813 (153)

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

, 2003
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal ...
Savarirayan, Ravi, Hayes, Mark, Flanagan, Simon, Glass, Ian A., Hyland, Valentine J., Roscioli, Tony, Masel, John, Robertson, Stephen P.   +7 more
core   +1 more source

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports. [PDF]

Ann Med Surg (Lond), 2023
Shrestha AB, Chapagain S, Umar TP, Yadav RS, Shrestha S, Bhandari K, Sedai R, Poudel A, Mahat C, Sharma S, Bhandari A.   +10 more
europepmc   +1 more source

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

PLoS ONE, 2018
Activating mutations of fibroblast growth factor receptors (FGFRs) are a major cause of skeletal dysplasias, and thus they are potential targets for pharmaceutical intervention. BMN 111, a C-type natriuretic peptide analog, inhibits FGFR signaling at the
Greg Holmes, Lening Zhang, Joshua Rivera, Ryan Murphy, Claudia Assouline, Lorraine Sullivan, Todd Oppeneer, Ethylin Wang Jabs   +7 more
doaj   +1 more source

Thanatophoric skeletal dysplasia: a rare case report [PDF]

A diverse range of bone growth disorders known as skeletal dysplasias are brought on by new mutations in the FGFR3 gene, which cause abnormalities in the size and shape of the skeleton.
Holla, Vijaya Narayana K., Arora, Rishabh   +1 more
core   +1 more source

Unveiling the Mystery of Thanatophoric Dysplasia: A Case Report on Clinical and Radiological Correlation in a Low-Antenatal Care Setting [PDF]

Thanatophoric Dysplasia (TD) is a rare, lethal skeletal dysplasia caused by FGFR3 gene mutations, leading to severe bone and cartilage abnormalities. TD is classified into two subtypes: Type 1, characterized by bowed femurs and a normal skull, and Type 2,
Abbas, Javeria, Wasim, Asad Ullah Wasim, Syed, Shehbano, Asif , Sara, Hamza, Muhammad, Rasheed, Zohaib   +5 more
core   +1 more source

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue

The Turkish Journal of Pediatrics, 2008
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported.
Diclehan Orhan, Sevim Balci, Ozgür Deren, Eda Gülen Utine, Ahmet Başaran, Gülsev Kale   +5 more
doaj  

Type-i Thanatophoric Dysplasia: Unraveling A Lethal Skeletal Disorder

, 2015
Type-I Thanatophoric Dysplasia is an uncommon and severe skeletal disorder characterized by abnormal bone development, leading to a lethal outcome shortly after birth.
Hariprasad, A. (A)
core  

Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

, 2003
A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal ...
Maas, Mario, Stoker, Jaap, Oostra, Roelof-Jan, Jap-A-Joe, Simone M. E. A. A., van der Horst, Chantal M. A. M.   +4 more
core   +1 more source

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Diagnostic Pathology, 2017
Background The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development.
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir   +4 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
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