Kera Jeslin, Watal Pankaj, Ali Syed A
Medicine, University of Central Florida College of Medicine, Orlando, USA.
Radiology, Nemours Children's Hospital, Orlando, USA.
Cureus. 2021 Jul 14;13(7):e16395. doi: 10.7759/cureus.16395. eCollection 2021 Jul.
14q22q23 microdeletion syndrome, also called Frias syndrome, is an extremely rare partial deletion of the long arm of chromosome 14 characterized by the anomalies of the pituitary gland, eyes, and hand/foot. Intellectual disability and facial dysmorphism are other common manifestations. Haploinsufficiency of the genes bone morphogenetic protein 4 () and orthodenticle homeobox 2 () accounts for most of the phenotypic abnormalities seen in these patients. There are only a few cases reported with Frias syndrome in the literature, and there are multiple variations present, which are not well recognized due to different set of genes involved. This case report presents the case of a young child with a deletion in 14q22.2q23.1 region containing both and genes as well as sineoculis homeobox homolog 1 () and sineoculis homeobox homolog 6 () genes. The case report illustrates the wide phenotypic findings associated with these genes along with additional unique findings that previously have not been commonly reported.
14q22q23微缺失综合征，也称为弗里亚斯综合征，是一种极为罕见的14号染色体长臂部分缺失，其特征为垂体、眼睛和手/足异常。智力残疾和面部畸形是其他常见表现。骨形态发生蛋白4（BMP4）基因和正齿同源盒2（OTX2）基因的单倍剂量不足是这些患者中所见大多数表型异常的原因。文献中仅报道了少数几例弗里亚斯综合征病例，且存在多种变异情况，由于涉及的基因不同，这些变异并未得到充分认识。本病例报告介绍了一名幼儿，其14q22.2q23.1区域存在缺失，该区域包含BMP4和OTX2基因以及小眼同源盒1（SIX1）基因和小眼同源盒6（SIX6）基因。该病例报告展示了与这些基因相关的广泛表型发现以及以前未普遍报道的其他独特发现。
