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South African Medical Journal =... May 2016Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of... (Review)
Review
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. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis.
Topics: Autopsy; Brain; Humans; Prenatal Diagnosis; Thanatophoric Dysplasia
PubMed: 27245526
DOI: 10.7196/SAMJ.2016.v106i6.10993 -
Indian Pediatrics Nov 1994
Review
Topics: Adult; Female; Humans; Pregnancy; Prevalence; Thanatophoric Dysplasia
PubMed: 7896342
DOI: No ID Found -
Clinical Neuropathology 2021
Topics: Humans; Neuropathology; Receptor, Fibroblast Growth Factor, Type 3; Thanatophoric Dysplasia
PubMed: 33287954
DOI: 10.5414/NP301318 -
Developmental Dynamics : An Official... Apr 2017Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related... (Review)
Review
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity. Paradoxically, increased FGFR3 signaling profoundly suppresses proliferation and maturation of growth plate chondrocytes resulting in decreased growth plate size, reduced trabecular bone volume, and resulting decreased bone elongation. In this review, we discuss the molecular mechanisms that regulate growth plate chondrocytes, the pathogenesis of Ach, and therapeutic approaches that are being evaluated to improve endochondral bone growth in people with Ach and related conditions. Developmental Dynamics 246:291-309, 2017. © 2016 Wiley Periodicals, Inc.
Topics: Achondroplasia; Animals; Chondrocytes; Growth Plate; Humans; Receptor, Fibroblast Growth Factor, Type 3; Signal Transduction
PubMed: 27987249
DOI: 10.1002/dvdy.24479 -
The Pan African Medical Journal 2020A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated...
A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that has sporadic occurrence and early ultrasound scan has not been of great benefit in its detection. Diagnosis is mostly made in the third trimester. The fetal death is usually due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to brainstem compression. In view of the autosomal dominance of TD, it will be advisable for a woman with previous history to have prenatal screening to relieve parental anxiety and prevent late detection.
Topics: Adult; Female; Humans; Pregnancy; Pregnancy Trimester, Third; Receptor, Fibroblast Growth Factor, Type 3; Thanatophoric Dysplasia; Ultrasonography, Prenatal
PubMed: 33520059
DOI: 10.11604/pamj.2020.37.220.21211 -
Ryoikibetsu Shokogun Shirizu 2001
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Acta Pathologica Japonica Mar 1984Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized...
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric dysplasia is considered with a survey of the literature.
Topics: Achondroplasia; Bone Diseases, Developmental; Bone and Bones; Dwarfism, Pituitary; Humans; Infant, Newborn; Male; Ossification, Heterotopic
PubMed: 6430028
DOI: 10.1111/j.1440-1827.1984.tb07566.x -
Ultrasound in Obstetrics & Gynecology :... Jul 2001
Topics: Adult; Fatal Outcome; Female; Humans; Imaging, Three-Dimensional; Infant, Newborn; Pregnancy; Thanatophoric Dysplasia; Ultrasonography, Prenatal
PubMed: 11489235
DOI: 10.1046/j.1469-0705.2001.00402.x -
Ceska Gynekologie 2023Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The...
Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.
Topics: Pregnancy; Female; Humans; Thanatophoric Dysplasia; Exome; Pregnancy Trimester, Second; Receptor, Fibroblast Growth Factor, Type 3; Ultrasonography, Prenatal
PubMed: 37932055
DOI: 10.48095/cccg2023376