An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL
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DOI：
10.1097/mcd.0b013e32834c4afc
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发表时间：
2012-01-01
影响因子：
0.7
通讯作者：
FitzPatrick, David R.
中科院分区：
文献类型：
--
作者：
Murray, Jennie E.;Walayat, Muhammed;FitzPatrick, David R.
Cornelia de Lange综合征(CDLS)是一种多系统疾病，活产儿患病率约为每15000人中有一人。临床诊断是基于一种特征性的相貌--低额毛线、短鼻子、三角形鼻尖、新月形嘴巴、鼻子朝上和弓形眉毛--具有特征性的肢体缺陷和独特的生长发育模式。在所有典型的CDL病例中，大约有一半存在NIPBL编码基因的杂合性功能丧失突变，NIPBL是凝聚力加载装置的一个组成部分(Dorsett和Krantz，2009)。在此，我们描述一个罕见的NIPBL基因内缺失的患者，他有典型的小头畸形和发育问题，但不典型的生长模式和面部特征。先证者是通过自然阴道分娩顺利怀孕后出生的。出生体重2.92公斤[标准差(SD)-0.98]，枕额周长31 cm(-3.3 SD)。他于第二天出院，没有发现任何异常。在5周大的时候，他被认为是因为父母对喂养和体重增加不佳的担忧。体重和长度都在第25百分位数，但OFC保持31厘米(-5.2SD)。他接受了临床遗传学服务机构的检查，发现他有三角头，额头高高倾斜，耳轮折叠，额头突出。
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000. Clinical diagnosis is based on a characteristic facies–low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows–characteristic limb defects and a distinctive pattern of growth and development. Approximately half of all classical cases of CdLS have heterozygous lossof-function mutations in the gene encoding NIPBL, a component of the cohesion-loading apparatus (Dorsett and Krantz, 2009). Herein we describe a patient with a rare intragenic deletion of NIPBL who has typical microcephaly and developmental problems but atypical growth pattern and facial features.The proband was born after an uneventful pregnancy by spontaneous vaginal delivery. Birth weight was 2.92 kg [–0.98 standard deviation (SD)] and occipitofrontal circumference (OFC) was 31cm (–3.3 SD). He was discharged home on day 2 and no abnormality had been noted. At 5 weeks of age, he was seen for parental concerns with regard to feeding and poor weight gain. Weight and length were on the 25th centile but OFC remained 31 cm (–5.2 SD). He was reviewed by clinical genetics services and was noted to have turricephaly, a high sloping forehead, overfolded ear helix, and a frontal