Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review. [PDF]
Prenat DiagnABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Valovičová K +4 more
europepmc +2 more sources
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. [PDF]
Am J Med Genet A, 2008 Waller DK +9 more
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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.
Rishabh Arora, Vijaya Narayana K. Holla
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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes.
Hwa Young Kim, Jung Min Ko
doaj +1 more source
Thanatophoric Skeletal Dysplasia: A Case Report
Journal of Nepal Medical Association, 2020 Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum +2 more
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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]
, 2020 BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R +5 more
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A case of recurrent thanatophoric dwarfism [PDF]
, 2021 An interesting case of Recurrent Thanatophoric Dwarfism in a Multigravida; reporting to this hospital in second trimester which was terminated. It was confirmed on anomalies scan and was lethal.
Devi, L. Thulasi, S., Athul R.
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Thanatophoric dysplasia, an enigmatic dilemma: a case report [PDF]
, 2016 Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs.
Chanda Rai +3 more
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Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]
, 2016 OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS +6 more
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Current Care and Investigational Therapies in Achondroplasia. [PDF]
, 2017 The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Gouze, E., Unger, S.
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