PDF(Pubmed)
Abstract：
Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C>T p.(Arg336Ter) and NM_000751.2:c.973_975delGTG p.(Val325del), and measurement of the facial angle for determining micrognathia by prenatal diagnosis in the first trimester of pregnancy for a Lethal multiple pterygium syndrome case. In conclusion, this report complements the spectrum of genetic variants and phenotype of Lethal multiple pterygium syndrome and provides reliable recommendation for the counseling of future pregnancies in families with the disease.
摘要：
致命多发性翼状胬肉综合征（LMPS）是一种罕见的疾病，具有遗传和表型异质性，并且以常染色体隐性（AR）模式遗传。这里,我们已经提出了临床上有意义的结果，描述了CHRND基因的两个新突变：NM_000751.2：c.1006C>Tp。（Arg336Ter）和NM_000751.2：c.973_975delGTGp。（Val325del），并测量面部角度，以通过产前诊断确定妊娠早期的致命性多发性翼状胬肉综合征病例。总之,本报告补充了致命性多发性翼状胬肉综合征的遗传变异和表型谱,并为患有该疾病的家庭的未来妊娠咨询提供了可靠的建议.
