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What is the Diagnosis?

机译：什么是诊断？

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Our proband is currently a 2-year-old boy. He was bornat full term with birth weight of 2.7 kg to a nonconsanguineousChinese couple. He presented withhypotonia and feeding difficulties during the neonatalperiod, otherwise the perinatal and family history wasunremarkable. The patient was first referred to the ClinicalGenetic Service at 5 months of age. Physical examinationshowed his head circumference was below 3rd centile witha body weight at 10th centile and a supine length between3rd to 10th centile. He had subtle dysmorphic featuresAnswer to "Clinical Quiz" on Pages 130-132N.B. The Editors invite contributions of illustrative clinical casesor materials to this section of the journal.Clinical Quizincluding narrow bifrontal diameter, almond-shaped eyes,low-set ears, narrow nasal bridge, down-turned corners ofthe mouth and micrognathia. There was bilateralcryptorchidism and small hands and feet.
机译：我们的先证者目前是一个2岁男孩。他足月出生，体重为2.7公斤，来自中国的一对没有血缘的中国夫妇。他在新生儿期间表现为低钾血症和进食困难，否则围产期和家族史并不明显。该患者于5个月大时首次被转诊至临床遗传服务。体格检查显示他的头围低于3个百分位，体重为10个百分位，仰卧位在3至10个百分位之间。他具有微弱的变形特征，请参见第130-132N.B页上的“临床测验”。编辑们邀请有说明性的临床案例或资料的作者参与本期杂志。临床测验包括狭窄的双额叶直径，杏仁形的眼睛，低沉的耳朵，狭窄的鼻梁，下弯的嘴角和微棘痛。有双边隐睾症，手脚小。

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