Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children [0.03%]
印度裔儿童中隐性成骨不全症过度诊断的现象分析
Inusha Panigrahi,Yousaf Qureshi,Uwe Kornak
Inusha Panigrahi
Several genes are implicated in the etiology of early onset osteogenesis imperfecta (OI). The various genes causing severe OI include WNT1 , SERPINF1 , P3H1 , CREB3L1 , and CRTAP , although glycine substitutions in COL1A1chains have also be...
Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria [0.03%]
两种新的ADGRG1/GPR56复合杂合突变与广泛性脑多小叶回畸形相关
Ruchika Jha,Uday B Kovilapu,Amit Devgan et al.
Ruchika Jha et al.
Background Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 ( ADGRG1 ) / G protein-coupled receptor 56 ( GPR56 ) mutations. Case R...
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11) [0.03%]
染色体易位t(7;10)(7p22.3;q26.11)所致神经发育障碍为主要临床特征的研究
Mario Mastrangelo,Barbara Torres,Gloria De Vita et al.
Mario Mastrangelo et al.
Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of ...
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis [0.03%]
颅骨硬化型osteopathia striata的面容-影像学-基因诊断
Veronica Arora,Sunita Bijarnia-Mahay,K K Saxena et al.
Veronica Arora et al.
Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clini...
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient [0.03%]
XYLT2新变异导致的斯pondylo-ocular综合征病例报告
Musallam Al-Araimi,Nishath Hamza,Aliya Al-Hosni et al.
Musallam Al-Araimi et al.
Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated...
Dirk E Schrander,Heleen M Staal,Colin A Johnson et al.
Dirk E Schrander et al.
The combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. ...
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas [0.03%]
大型肠系膜戈谢瘤对底物减少治疗的反应：戈谢瘤的新疗法
Shoji Yano,Kathryn Moseley,Neha Mahajan et al.
Shoji Yano et al.
Gaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly develop in the lymph...
Musallam Al-Araimi,Aliya Al-Hosni,Ashwaq Al Maimani
Musallam Al-Araimi
Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the pat...
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India [0.03%]
印度南部GM1和GM2仓鼠凝集素病的临床及实验室检查特点
Vykuntaraju K Gowda,Priya Gupta,Narmadham K Bharathi et al.
Vykuntaraju K Gowda et al.
Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data about gangliosidosis in India; hence, this study was planned. The aim is...