Fetal hydropsGene: PTH1R
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
Both fetuses hydropic, one grossly so.
Sources: Expert list
Created: 30 Dec 2019, 8:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Variants in this GENE are reported as part of current diagnostic practice
gene: PTH1R was added gene: PTH1R was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 3975110; 9268097; 8723092 Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD Review for gene: PTH1R was set to GREEN gene: PTH1R was marked as current diagnostic