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首页> 外文期刊>Clinical dysmorphology >Unusual neuroradiological features in Schinzel-Giedion syndrome: A novel case
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Unusual neuroradiological features in Schinzel-Giedion syndrome: A novel case

机译：Schinzel-Giedion综合征的异常神经放射学特征：一个新病例

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The patient was born by elective Gaesarean section for breech presentation at 39 weeks' gestation weighing 2.94 kg. He is the first child, male, of unrelated parents, both of whom have mild learning difficulties with no identified underlying genetic cause. Following birth, dysmorphic features were noted, including a prominent forehead, infraorbital grooves, enlarged and anteriorly folded earlobes, macroglossia and a short, upturned nose (Fig. 1). There was camptodactyly of the digits of his left hand, fifth-digit clinodactyly of the right hand, bilateral proximally placed fifth toes and hypospadias. A renal ultrasound shortly after birth showed bilateral hydrone-phrosis. Skeletal examination showed a wide occipital synchondrosis (Fig. 2), deficient ossification of the inferior pubic rami and mild hypoplasia of the terminal phalanges.
机译：该患者于39周妊娠时通过择期剖腹产出生，臀位重2.94 kg。他是无亲属父母的第一个孩子，男性，他们俩都有轻微的学习困难，没有发现潜在的遗传原因。出生后发现畸形，包括前额突出，眶下沟，耳垂扩大和向前折叠，大舌症和短而上翘的鼻子（图1）。他的左手手指有趾状，右手有五指趾状，双侧近端放置第五个脚趾和尿道下裂。出生后不久的肾脏超声显示双侧肾盂积水。骨骼检查显示枕骨宽阔共生（图2），耻下下肌骨化不足和末节指骨轻度发育不全。

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