After prenatal imaging and genetic testing confirmed Meckel-Gruber syndrome, the medical team counseled the parents about the grave prognosis associated with renal cystic dysplasia, occipital encephalocele, postaxial polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
After prenatal imaging and genetic testing confirmed Meckel-Gruber syndrome, the medical team counseled the parents about the grave prognosis associated with renal cystic dysplasia, occipital encephalocele, postaxial polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
出生前の画像検査と遺伝子検査により、腎嚢胞性形成不全、後頭部脳瘤、外側多指症、肝発生異常、羊水過少による肺低形成を特徴とする、希少で致命的な繊毛障害に起因する遺伝性疾患と診断された後、医療チームは重篤な予後について両親に説明した。