Ultrasonography in the diagnosis and management of developmental dysplasia of the hip

EW Edmonds, JL Hughes, JD Bomar, JT Brooks… - JBJS …, 2019 - journals.lww.com
Ultrasonography in the Diagnosis and Management of Developme... : JBJS Reviews
Ultrasonography in the Diagnosis and Management of Developmental Dysplasia of the Hip …

[HTML][HTML] CHST3-related skeletal dysplasia

A Superti-Furga, S Unger - 2019 - europepmc.org
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint
dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can …

Critical structural defects explain filamin A mutations causing mitral valve dysplasia

TJK Haataja, R Capoulade, S Lecointe, M Hellman… - Biophysical journal, 2019 - cell.com
Mitral valve diseases affect∼ 3% of the population and are the most common reasons for
valvular surgery because no drug-based treatments exist. Inheritable genetic mutations …

A case study of atypical Larsen syndrome with absent hallmark joint dislocations

N Kodra, C Diamonstein… - Molecular Genetics & …, 2019 - Wiley Online Library
Background A family with skeletal and craniofacial anomalies is presented. Whole‐exome
sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their …

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

SE Hickey, DC Koboldt… - Molecular …, 2019 - molecularcasestudies.cshlp.org
A 4-yr-old female with congenital knee dislocations and joint laxity was noted to have a
strong maternal family history comprising multiple individuals with knee problems and …

Larsen Syndrome and the Hip

JS Huntley - The Pediatric and Adolescent Hip: Essentials and …, 2019 - Springer
Larsen syndrome (LS) is an autosomal dominant condition occurring due to certain types of
mutation in filamin-B (FLN-B), in which there are consequent multiple large joint dislocations …

[PDF][PDF] Anaesthetic Implications of children with Larsen syndrome

SRS Anandkumar - Indian Journal of Clinical Anaesthesia, 2019 - academia.edu
Abstract Objectives: Larsen Syndrome (LRS) is a rare osteochondrodysplasia, presenting
with large-joint dislocations, foot deformities and craniofacial abnormalities. These often …

[HTML][HTML] Genetic alterations in cortical development as a cause of epileptogenic disorders

C Llinares‐Benadero - 2019 - dialnet.unirioja.es
Durante la embriogénsis, el desarrollo de la corteza cerebral sufre una dramática expansión
y plegamiento. Alteraciones en el plegamiento cortical causan discapacidad intelectual y …

出生前に形態異常を指摘できなかった羊水過多をともなう胎児Larsen 症候群の一例

三瓶彰子, 上田美里, 黒田健治… - 静岡産科婦人科学会 …, 2019 - hama-med.repo.nii.ac.jp
Untitled Page 1 Page 2 静岡産科婦人科学会雑誌 (ISSN 2187-1914) 2019 年 第 8 巻 第 2 号
151 頁 151 出生前に形態異常を指摘できなかった羊水過多をともなう 胎児 Larsen 症候群の一例 …