BackgroundProximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One is proximal symphalangism-1A (SYM1A), which is caused by genetic variants in Noggin (NOG), another is proximal symphalangism-1B (SYM1B), which is resulted from Growth Differentiation Factor 5 (GDF5) mutations.Case presentationHere, we reported a Chinese family with symphalangism of the 4th and/or 5th finger and moderate deafness. The proband was a 13-year-old girl with normal intelligence but symphalangism of the 4th finger in the left hand and moderate deafness. Hearing testing and inner ear CT scan suggested that the proband suffered from structural deafness. Family history investigation found that her father (II-3) and grandmother (I-2) also suffered from hearing loss and symphalangism. Target sequencing identified a novel heterozygous NOG mutation, c.690C > G/p.C230W, which was the genetic lesion of the affected family. Bioinformatics analysis and public databases filtering further confirmed the pathogenicity of the novel mutation. Furthermore, we assisted the family to deliver a baby girl who did not carry the mutation by genetic counseling and prenatal diagnosis using amniotic fluid DNA sequencing.ConclusionIn this study, we identified a novel NOG mutation (c.690C > G/p.C230W) by target sequencing and helped the family to deliver a baby who did not carry the mutation. Our study expanded the spectrum of NOG mutations and contributed to genetic diagnosis and counseling of families with SYM1A.
Giant placental chorioangiomas associated with fetal hyperdynamic circulation complications are rare to see. Here, we summarized a case of giant placental chorioangioma associated with fetal anemia and heart failure treated by radiofrequency ablation (RFA) combined with cordocentesis and intrauterine transfusion. The sonographic appearance of the placental chorioangioma was atypical which was isoechoic with unclear boundary. RFA was performed successfully at 27 weeks of gestation, when the chorioangioma has increased to 17.0 × 10.6 × 12.3 cm3. Unfortunately, intrauterine fetal demise was found on the first day after operation. After induction of labor, it was pathologically confirmed as placental chorioangioma.
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