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 +4 more
doaj +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 +5 more
doaj
Role of Autopsy and Genetic Testing in the Diagnosis of Perinatal Deaths due to Congenital Anomalies: A Cross-sectional Study [PDF]
Indian Journal of Neonatal Medicine and ResearchIntroduction: Foetal autopsy is one of the primary modalities for establishing the underlying causative aetiology in congenitally anomalous foetuses. Genetic aetiology is the cause in at least half of the foetuses.
Asaranti Kar +6 more
doaj +1 more source
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers ofde novothanatophoric dysplasia type
, 2014 Gabriele Tonni +5 more
openalex +1 more source
Thanatophoric dysplasia: A review
South African Medical Journal, 2016 Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain.
openaire +3 more sources
The role of sonographic phenotyping in delivering an efficient non-invasive prenatal diagnosis (NIPD) service for FGFR3-related skeletal dysplasias [PDF]
, 2020 Objectives: To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3‐related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral.
Chandler, N +3 more
core
Thanatophoric dysplasia: a rare entity [PDF]
, 2016 Thanatophoric dysplasia (TD), a rare and lethal skeletal dysplasia of neonatal period. Two clinical forms of Thanatophoric dysplasia have been described.
Arya, Sangeeta +3 more
core +1 more source
Cell-free fetal DNA: the new tool in fetal medicine. [PDF]
, 2014 Chitty, LS, Everett, TR
core +1 more source
The Thanatophoric Dysplasia Type II Mutation Hampers Complete Maturation of Fibroblast Growth Factor Receptor 3 (FGFR3), Which Activates Signal Transducer and Activator of Transcription 1 (STAT1) from the Endoplasmic Reticulum [PDF]
, 2003 Patricia Lievens, Elio Liboi
openalex +1 more source
A full-term infant with type II thanatophoric dysplasia [PDF]
, 2018 Natharina Yolanda +3 more
openalex +1 more source