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首页> 外文期刊>Clinical dysmorphology >The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt
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The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt

机译：有16q23.1-16q23.3缺失，整体发育延迟，三角脑畸形和门静脉分流的患者的肾钙化病的首次报道

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Our patient is a 4-year-old boy born to a healthy 27-year-old G4P3L3 mother. The pregnancy was complicated by mild maternal anemia and diet-controlled gestational diabetes mellitus. Serum screening for aneuploidy was normal. The patient was born by spontaneous vaginal delivery at term with a birth weight of 3385 g (25th-50th percentile). Apgar scores were 5 at 1 min and 9 at 5 min. He was admitted to the neonatal IGU for less than 24 h for respiratory distress and hypoglycemia, both of which resolved spontaneously. Family history was unremarkable apart from mild learning disabilities in the father and two paternal half brothers.
机译：我们的患者是一个4岁男孩，由一个健康的27岁G4P3L3母亲所生。妊娠合并轻度产妇贫血和饮食控制的妊娠糖尿病。血清筛查非整倍性正常。该患者足月通过自然阴道分娩出生，出生体重为3385 g（25至50％）。 Apgar的分数在1分钟时为5，在5分钟时为9。他因呼吸窘迫和血糖过低而入院接受了少于24小时的新生儿IGU，两者均能自发缓解。除了父亲和两个父亲的同父异母兄弟的轻度学习障碍外，家族史很少。

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