A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism [0.03%]
罕见的神经元 ceroid 溶酶体贮积病1型（NCL-1）与维生素D依赖性佝偻病1型（VDDR-1）、复合物I线粒体缺乏、色素镶嵌混合变异棋盘和叶状类型的病例报告
Vykuntaraju K Gowda,Anusha Raj K,Varunvenkat M Srinivasan et al.
Vykuntaraju K Gowda et al.
Introduction Neuronal ceroid lipofuscinosis-type 1 (NCL-1) is a neurodegenerative lysosomal storage disorder. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare cause of refractory rickets. Here, we report an unusual association of NCL-1...
CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye [0.03%]
土耳其Çukurova地区原发性先天性青光眼患者的CYP1B1和MYOC基因分析
Ahsen Cavusoglu Akbas,Elif Erdem,Sevcan Tug Bozdogan et al.
Ahsen Cavusoglu Akbas et al.
The aim of this study was to investigate the CYP1B1 and MYOC genes in patients with primary congenital glaucoma (PCG) from the Cukurova region (located in the south of Türkiye) and reveal the relationship between gene mutations and clinica...
Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome [0.03%]
土耳其唐氏综合症儿童先天性心脏病的危险因素：同种免疫可能起作用
Yasar Kandur,Derya Beyza Sayın Kocakap,Aysegul Alpcan et al.
Yasar Kandur et al.
We aimed to evaluate the clinical characteristics and the risk factors for the anomalies of Down's syndrome (DS) patients and reviewed the relation of blood groups of the patients and the mothers with these anomalies. Pediatric patients who...
A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review [0.03%]
NKX2-5基因错义杂合突变致先天性室间隔缺损和心肌病家系及文献复习
Abdulqader Al Zubaidi,Aisha Al-Shamsi
Abdulqader Al Zubaidi
Single-gene mutations are important causes of congenital heart defects in children. Mutations in the NKX2-5 gene have been recently described in the literature as a cause of septal defects and cardiomyopathy. However, the spectrum of cardia...
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima-Morton-Nance Syndrome from Asia [0.03%]
卡萨马萨玛-莫尔顿-南斯综合征亚洲首例报告：一名婴幼儿脊柱肋骨发育不良、肛门闭锁和泌尿系统畸形患者病例分析
Radhapyari Lourembam,Manish Kumar Gupta,Poonam Sherwani et al.
Radhapyari Lourembam et al.
Casamassima-Morton-Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then...
Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome [0.03%]
复发性皮肤溃疡伴面部畸形和鼻肺感染：超越高IgE综合征的思考
Aakash Chandran Chidambaram,Kiruthiga Sugumar,Selvamanojkumar Sundaravel et al.
Aakash Chandran Chidambaram et al.
Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs d...
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience [0.03%]
奥曼患者中PIEZO2基因新型变异导致的感觉异常的远端关节畸形综合征及单中心病例的基因型与临床表型关系分析
Aaisha Al Balushi,Mariya Al Hinai,Alya Al Hosni et al.
Aaisha Al Balushi et al.
Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected mem...
Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review [0.03%]
22q11.2微缺失综合征新生儿并发肠道畸形一例及相关文献复习
Bedour Jafar,Hanna Alemayehu,Ramachandra Bhat et al.
Bedour Jafar et al.
Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because it...
Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients [0.03%]
利比亚Sanjad-Sakati综合征患者TBCE基因纯合突变c.155-166del：该基因在所有阿拉伯族系患者中均存在相同突变
Millad Ghawil,Nesrin Ben Omar,Milad Doggah
Millad Ghawil
Sanjad-Sakati syndrome (SSS) (Online Mendelian Inheritance in Man 241410) is a rare autosomal recessive disorder also known as hypoparathyroidism-retardation-dysmorphism syndrome. It is characterized by congenital hypoparathyroidism, growth...
Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency [0.03%]
肉碱棕榈酰转移酶IA缺乏所致的长时间胆汁淤积性黄疸
Nida Mirza,Ravi Bharadwaj,Smita Malhotra et al.
Nida Mirza et al.
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients ...