Anderson Sharon, Brooks Susan Sklower
Rutgers, The State University of New Jersey, School of Nursing, Newark (Dr Anderson); and Rutgers Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick (Drs Anderson and Brooks).
Adv Neonatal Care. 2015 Aug;15(4):274-84. doi: 10.1097/ANC.0000000000000210.
Advanced prenatal screening and diagnostic testing have increased the number of newborns born with a confirmed diagnosis. Not all infants, however, are born with a known diagnosis. In fact, for some conditions, physical findings evolve over time and diagnosis can be further delayed because of premature birth.
This article shares a case report of a dysmorphic preterm infant admitted to the intensive care nursery for routine care. The emergence of physical findings as the baby matured during the first weeks of life and the stepwise, diagnostic approach used to confirm a rare genetic condition, cardiofaciocutaneous (CFC) syndrome, is provided.
CASE FINDINGS/RESULTS: Key physical differences apparent at birth prompted screening for several genetic syndromes and a number of inborn errors of metabolism. As the phenotype emerged, a type of RASopathy entered the differential, the most likely of which was CFC syndrome.
Although CFC syndrome is rare, the combined incidence rate of RASopathies is greater, and as such, providers should be familiar with such conditions. Classic features may not be apparent in preterm infants so providers must remain astute to physical changes and communicate them with genetic consultants.
Gaining a better understanding of how providers can best support parents through the lengthy, diagnostic odyssey of genetic testing is important. In addition, ongoing research is needed to try to identify a genotype-phenotype correlation for CFC syndrome to guide patient surveillance and provide prognostic information to parents.
先进的产前筛查和诊断检测增加了确诊出生的新生儿数量。然而，并非所有婴儿出生时都有已知诊断。事实上，对于某些病症，身体特征会随时间演变，并且由于早产，诊断可能会进一步延迟。
本文分享了一例患有畸形的早产儿入住重症监护病房接受常规护理的病例报告。文中介绍了婴儿在出生后的头几周成长过程中身体特征的出现情况，以及用于确诊一种罕见遗传病——心面皮肤综合征（CFC综合征）的逐步诊断方法。
病例发现/结果：出生时明显的关键身体差异促使对多种遗传综合征和一些先天性代谢缺陷进行筛查。随着表型的出现，一种RAS病进入鉴别诊断范围，其中最可能的是CFC综合征。
尽管CFC综合征很罕见，但RAS病的综合发病率更高，因此，医疗服务提供者应熟悉此类病症。典型特征在早产儿中可能不明显，所以医疗服务提供者必须对身体变化保持敏锐，并与遗传咨询顾问沟通这些变化。
更好地了解医疗服务提供者如何在漫长的基因检测诊断过程中为家长提供最佳支持非常重要。此外，需要持续开展研究，试图确定CFC综合征的基因型与表型之间的相关性，以指导患者监测并向家长提供预后信息。
