An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation [0.03%]
一个无SLC2A2基因突变的印度Fanconi-Bickel综合征女孩
Devi Dayal,Parag Dekate,Sheetal Sharda et al.
Devi Dayal et al.
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization ...
Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report [0.03%]
6P终端缺失综合征类似CHARGE综合征：一例报告
Gabrielle Freire,Laura Russell,Maryam Oskoui
Gabrielle Freire
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a numb...
Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted? [0.03%]
新生儿期进行Brugada综合征筛查的必要性存疑
Michelle N Vazquez,Gabrielle Gold-von Simson
Michelle N Vazquez
Brugada syndrome (BrS) is rare genetic disorder, which manifests as syncope or sudden death caused by polymorphic ventricular tachycardia. Diagnosis is based on symptoms and characteristic electrocardiography findings. Identification of mut...
Filip Haenen,Marielle Alders,Elke Dierckx et al.
Filip Haenen et al.
Hyper-immunoglobulin E syndrome (HIES) is a rare immunologic disorder. This syndrome is caused by mutations in signal transducer and activator of transcription 3 gene. The described case report showed clinical HIES features such as recurren...
Case Reports
Journal of pediatric genetics. 2013 Jun;2(2):91-6. DOI:10.3233/PGE-13053 2013
Camila Ive Ferreira Oliveira,Agnes Cristina Fett-Conte
Camila Ive Ferreira Oliveira
Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental impairment. BDs ...
Sheila Castro-Sánchez,María Álvarez-Satta,Diana Valverde
Sheila Castro-Sánchez
Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as...
Izabela R Santos,Ana Paula Fernandes,Marinez O Sousa et al.
Izabela R Santos et al.
Dyslipidemia is an important etiological factor for development of cardiovascular disease, which is the leading cause of deaths in adults. Given the growing global epidemic of dyslipidemia, lipoprotein metabolism disorders have become an im...
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects [0.03%]
Lowe 综合征/Dent 2 疾病：已知和新近认识的各方面内容综述
Florian Recker,Heiko Reutter,Michael Ludwig
Florian Recker
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas...
Chaitanya Varma,Ramesh Y Bhat,Sonia Bhatt
Chaitanya Varma
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition. ...
Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III [0.03%]
口颌面下肢发育不良综合征三型合并半侧脑发育不全及葡萄酒色斑一例报告
Jaime Toral-López,Tania Córdoba-Cabeza,Maricela Villeda et al.
Jaime Toral-López et al.
Oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300) encompasses a group of uncommon disorders characterized by malformations in the mouth, jaw and limbs. It has been associated with various entities such as gastroschisis, pulmonary ...
Case Reports
Journal of pediatric genetics. 2013 Mar;2(1):43-7. DOI:10.3233/PGE-13047 2013