[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case].

N A Makretskaya, N Y Kalinchenko, A N Tiulpakov
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Abstract

Small for gestational age (SGA) refers to the size of an infant at birth, and is defined as a birth weight and/or birth length below the -2.0 SDS for the gestational age. In approximately 10% of cases, SGA is not compensated for in the postnatal period, with the pathogenesis of this condition being attributed to various monogenic syndromes or chromosomal abnormalities. The difficulty in making a pathogenetic diagnosis in this group of patients is due, on the one hand, to the similarity of phenotypic manifestations in the structure of the disease, on the other hand, to the variability of clinical manifestations within a specific syndrome. Conducting various molecular genetic studies is the main method of diagnosing the form of SGA. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is one of the most common genetic variants of SGA, with its phenotypic features including skeletal anomalies and cerebrovascular changes. The disease is caused by biallelic mutations in PCNT gene. This study presents the clinical characteristics of the first patient with microcephalic osteodysplastic primordial dwarfism type II in the Russian Federation. The nucleotide changes detected in the patient have not been previously described in the world literature.

Abstract Image

[小头型成骨异常原发性侏儒症II型(MOPD II):临床一例]。
小于胎龄(SGA)是指婴儿出生时的尺寸,定义为出生体重和/或出生长度低于胎龄的-2.0 SDS。在大约10%的病例中,SGA在产后没有得到补偿,这种情况的发病机制归因于各种单基因综合征或染色体异常。在这组患者中进行病理诊断的困难一方面是由于疾病结构中表型表现的相似性,另一方面是由于特定综合征内临床表现的可变性。进行各种分子遗传学研究是诊断SGA形式的主要方法。小头型成骨异常增生原始侏儒症II型(MOPD II)是SGA最常见的遗传变异之一,其表型特征包括骨骼异常和脑血管改变。该疾病是由PCNT基因双等位基因突变引起的。本研究介绍了俄罗斯联邦第一例小头型成骨异常原始侏儒症II型患者的临床特征。在患者中检测到的核苷酸变化在以前的世界文献中没有描述过。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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