Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children [0.03%]
一个有两个新生儿死亡的家庭中迟发型迪吉奥尔吉综合征(PCH1B)的诊断
Irena Bradinova,Silvia Andonova,Alexey Savov
Irena Bradinova
Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mut...
A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis [0.03%]
肌病的可治疗病因：以急性迟缓性瘫痪起病的生物素酶缺乏症
Vykuntaraju K Gowda,Chetan Kerur,Dhananjaya K Vamyanmane et al.
Vykuntaraju K Gowda et al.
Biotinidase deficiency (BD) is a rare treatable cause of neurometabolic disorders. It is an autosomal recessive disorder that manifests with cutaneous and neurological manifestations. Spinal cord involvement is uncommon with only a few case...
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder [0.03%]
新型SETBP1基因缺失导致儿童语言、智力与行为异常的新平衡易位
Ivona Vrkić Boban,Futoshi Sekiguchi,Mirela Lozić et al.
Ivona Vrkić Boban et al.
Balanced chromosomal abnormalities (BCAs) can disrupt gene function resulting in disease. To date, BCA disrupting the SET binding protein 1 ( SETBP1 ) gene has not been reported. On the other hand, de novo heterozygous variants in the highl...
Damla Demir,Yasemin Kendir Demirkol,Nelgin Gerenli et al.
Damla Demir et al.
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E...
Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor [0.03%]
一位3岁女性患儿因阴蒂肥大确诊为盆腔丛状神经纤维瘤的临床表现和Mek抑制剂治疗结果报告
Richelle C Waldner,Marta Rojas-Vasquez,Peter D Metcalfe et al.
Richelle C Waldner et al.
Plexiform neurofibroma (PN) involvement of the external genitalia in patients with neurofibromatosis type I (NF1) is a rare cause of nonhormonal clitoromegaly. We present a 3-year-old female with known NF1 who presented with clitoromegaly. ...
Pathum Sookaromdee,Viroj Wiwanitkit
Pathum Sookaromdee
Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver [0.03%]
未知病因的 hilar 胶样囊性肝病：供肝中的发现
Jagadeesh Menon,Mukul Vij,Naresh Shanmugam et al.
Jagadeesh Menon et al.
Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fi...
A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype [0.03%]
CHRNG截短变异导致Escobar综合征的一种多关节挛缩征亚型
Alexander J Sandweiss,Shalinkumar Patel,Mohammad Y Bader et al.
Alexander J Sandweiss et al.
Escobar syndrome is a milder variant of multiple pterygium syndrome characterized by pterygia, scoliosis, and multiple congenital contractures. It is most frequently due to a genetic variant in CHRNG , which encodes the γ-subunit of the ni...
Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report [0.03%]
小头骨发育不良性原发性矮身材二期综合征肾发育不全及早发糖尿病1例报告
Raquel Segovia-Ortí,Natalia Espinosa de Los Monteros Aliaga Cano,Javier Lumbreras et al.
Raquel Segovia-Ortí et al.
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other feat...
Vykuntaraju K Gowda
Vykuntaraju K Gowda