Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]
, 2016 Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe +10 more
core +1 more source
The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report [PDF]
, 2015 Introduction: The presence of a thin-walled, multicystic structure posterior to the fetal head and neck with an intact vertebral column is known as a cystic hygroma. Thanatophoric dysplasia is the most lethal skeletal dysplasia.
Abbas, Ahmed M. +4 more
core +2 more sources
Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature [PDF]
, 2014 Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen.
Keerthi Kocherla, Vasantha Kocherla
openalex +3 more sources
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. [PDF]
, 2018 Purpose Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and
A David +34 more
core +2 more sources
A rare case of neonatal dwarfism – Answer
Journal of Pediatric and Neonatal Individualized Medicine, 2022 We show a case of thanatophoric dysplasia (TD), in which the diagnosis was allowed by the identification of pathognomonic aspects at physical examination and by the whole body radiography.
Manuela Gallo +5 more
doaj +1 more source
Sri Lanka Journal of Obstetrics and Gynaecology, 2017 Thanatophoric dysplasia (TD) is a rare autosomal dominant lethal skeletal dysplasia with two subtypes. Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) results in both subtypes. In prenatal diagnosis of TD by three-dimensional ultrasound examination in second trimester aids in visualizing facial features and other soft tissue findings ...
M. F. Samsudeen +4 more
openaire +3 more sources
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu +6 more
doaj +1 more source
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
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 +4 more sources
Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review
International Journal of Gynecology &Obstetrics, Volume 169, Issue 2, Page 498-510, May 2025.Abstract Introduction Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields. Aims and Approach This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available ...
Licia Lugli +10 more
wiley +1 more source