Placental chorioangioma is an angioma arising from chorionic tissue. Fetal thanatophoric dysplasia is a lethal skeletal dysplasia due to mutation of fibroblast growth factor receptor 3 gene. These two conditions are rare and their coexistence in a given fetus is even rarer. We present a case of a fetus with thanatophoric dysplasia having high-output cardiac failure due to a large placental chorioangioma.
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Cureus
October 2024
Transfusion Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Thanatophoric dysplasia (TD) is a severe and typically fatal skeletal disorder caused by mutations in the FGFR3 gene, often leading to perinatal death. It is characterized by extreme short-limb dwarfism and, occasionally, associated anomalies such as hydronephrosis. Prenatal diagnosis, usually made in the third trimester through ultrasound and genetic testing, is crucial for guiding management decisions.
View Article and Find Full Text PDFJ Mol Diagn
December 2024
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah.
Mutation analysis provides confirmation of a clinical and radiological diagnosis of thanatophoric dysplasia types I and II (TD I and II). We developed a single multiplexed PCR and a single-nucleotide extension (SNE) assay to identify 14 common mutations causing 99% of TD I and TD II, including the challenging three adjacent mutations in the stop codon of exon 18 of the FGFR3 gene. The assay design also provides a solution for resolving SNE PCR product sizing using performance optimized polymer-7.
View Article and Find Full Text PDFClin Pediatr Endocrinol
March 2024
Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (). Pathogenic variants in also cause thanatophoric dysplasia (TD) and achondroplasia. Although the findings of SADDAN and TD during the fetal and neonatal periods are similar, they differ in their long-term prognoses.
View Article and Find Full Text PDFAsian J Endosc Surg
July 2024
Department of Neonatology, Seirei Hamamatsu General Hospital, Shizuoka, Japan.
Thanatophoric dysplasia (TD) is a rare and severe type of skeletal dysplasia. Typical clinical findings include macrocephaly, shortening of the four limbs, underdeveloped lungs, and thoracic hypoplasia. Neonates with TD develop severe respiratory problems due to thoracic hypoplasia and require respiratory management for survival.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
May 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2).
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