一名来自沙特近亲父母的足月男婴,和另一个活着的孩子,在胎儿异常扫描中怀疑患有骨骼发育不良。出生时的临床表现包括身材矮小,弯曲的长骨对下肢的影响大于对上肢的影响,严重关节挛缩,活动受限,未能茁壮成长,高张力症,食指弯曲。在婴儿期,注意到婴儿有吸吮和吞咽困难,需要鼻胃管喂养,和反复出现的呼吸窘迫发作,由于呼吸衰竭频繁入院,需要重症监护和机械通气。骨骼调查显示长骨和脊柱发育不良。为了调查一个可疑的遗传综合征,进行了全外显子组测序测试,在LIFR基因中发现了一个新的纯合突变。
A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contractures with restricted movement, failure to thrive, hypertonia, and camptodactyly of the index fingers. During infancy, the baby is noted to have sucking and swallowing difficulties necessitated nasogastric tube feeding, and recurrent respiratory distress episodes with frequent admissions due to respiratory failure required intensive care admission and mechanical ventilation. The skeletal survey demonstrated dysplasia of long bones and spine. To investigate a suspect genetic syndrome, a whole-exome sequencing test was performed, which identified a novel homozygous mutation in the LIFR gene.