Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) and thanatophoric
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric
dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Two congenital anomalies were encountered, one of which was thanatophoric
dysplasia (on colchicine therapy) and the other an open type neural tube defect (not on colchicine therapy).
5) Genetically, this is different for other common dysplasias of bone like milder hypochondroplasia to more lethal thanatophoric
dysplasia, in which the genetic locus is on the short arm of chromosome 4, fibroblast growth factor receptor 3 gene.
Common mutation in the FGFR3 gene account for achondroplasia, hypochondroplasia, and thanatophoric
Antenatal sonographic diagnosis of thanatophoric
dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.
Luke's Episcopal Hospital in Houston, Texas and immediately transferred to the neonatal intensive care unit at Texas Children's Hospital, where he was diagnosed with thanatophoric
dwarfism, a rare anal universally fatal form of neonatal dwarfism.
In one particularly difficult case, doctors wished to discontinue treatment for a baby born with thanatophoric
dysplasia, which is a uniformly fatal condition.
256) Sun was born with a genetic condition called thanatophoric
dysplasia, a form of dwarfism, which includes a narrow chest, small ribs, and underdeveloped lungs.
8, 9) The homozygous type is lethal, characterized by severe rhizomelic shortening, a narrow thorax and other characteristics occurring in thanatophoric
Andrea and Peter's child was diagnosed with thanatophoric
dysplasia, a growth disorder occurring once in about 10,000 pregnancies.