@article{oai:hama-med.repo.nii.ac.jp:00003517,
 author = {三瓶, 彰子 and 上田, 美里 and 黒田, 健治 and 成高, 和稔},
 issue = {2},
 journal = {静岡産科婦人科学会雑誌},
 month = {Sep},
 note = {Larsen症候群は関節障害や特異的顔貌を有する稀な疾患である。今回羊水過多を指摘されていた妊婦の児が、出生後Larsen症候群と診断された症例を経験したので報告する。
31歳、2妊1産。既往帝切後妊娠。今回自然妊娠で当院にて妊娠管理を行っていた。妊娠後期よりAFI (Amniotic fluid index) 25cm程度の羊水過多を指摘されたが、胎児奇形は指摘されず、well-being良好であるため経過観察されていた。既往帝切後妊娠、骨盤位に対し、妊娠36週6日に選択的帝王切開を施行した。出血量は羊水量込みで3500mlであった。児は女児、2679g、Apgarスコア 1分値1点、5分値3点、10分値8点、臍帯動脈血pH 7.362であり、特異顔貌やへら状指、反張膝、右股関節内反を認めた。Larsen症候群が疑われ、高次医療機関に新生児搬送となった。
羊水過多を伴う胎児に対し精査を行うも顔貌・骨格異常所見を診断できず、出生後Larsen症候群と判明した症例を経験した。希少な先天的・遺伝学的疾患の習熟にも留意し、胎児スクリーニングのスキル向上に努めなければならない。, Larsen syndrome is a rare hereditary disorder; characterized mainly by multiple congenital dislocation of joints and typical facial abnormalities. The current paper discusses a clinical case of Larsen Syndrome; which the diagnose was given after the delivery.
A 31 years-old woman (2 gravida 1 para), a previous caesarean section, was followed-up as a normal pregnancy. At the late stage of pregnancy, ultrasonography (USG) clarified ‘polyhydramnios (AFI:25cm)’. While the other baby’s malformations have not obtained and the baby’s well-being was stable, the pregnancy was carefully observed.
A planned, repeated CS was performed at the 36 week 6 days, with blood loss 3500ml (including a volume of amniotic fluid). A female baby, weight 2679g, was delivered with Apgar score 1 (at 1 min after birth), Apgar 3 (at 5 min), Apgar 8 (at 10min), Umbilical artery pH is 7.362. The baby’s multiple abnormalities were visible; specific facial appearance, dislocation of knees and right hip joint, and spatulate fingers. With the suspect of Larsen Syndrome, the baby was transferred into the higher medical facilitated hospital.
In this case, the prenatal diagnoses with detailed USG examination were not able to clarify the baby’s congenital malformations and facial disorders. Therefore, obstetricians need to consider rare genetical disorders and try to develop knowledge and skills that could improve the quality of prenatal diagnosis.},
 pages = {151--157},
 title = {出生前に形態異常を指摘できなかった羊水過多をともなう胎児Larsen症候群の一例},
 volume = {8},
 year = {2019}
}