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).
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.
Molecular diagnosis of craniosynostosis, via either direct sequencing (5) or mutational scanning with denaturing HPLC (DHPLC), had been described only for the FGFR2 gene (6); however, a DHPLC procedure was recently developed for detecting mutations in FGFR3, but it has been applied only to patients affected by achondroplasia and thanatophoric
In one particularly difficult case, doctors wished to discontinue treatment for a baby born with thanatophoric
dysplasia, which is a uniformly fatal condition.
Andrea and Peter's child was diagnosed with thanatophoric
dysplasia, a growth disorder occurring once in about 10,000 pregnancies.