Results 41 to 50 of about 406,691 (285)

Complex orthopaedic management of patients with skeletal dysplasias

Travmatologiâ i Ortopediâ Rossii, 2016
Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the ...
A. G. Baindurashvili, V. M. Kenis, E. V. Melchenko, F. Grill, A. Al-Kaissi   +4 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

JIMD Reports, 2020
Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs).
Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu   +9 more
doaj   +1 more source

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

, 2023
INTRODUCTION: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia” because of the resemblance of the pelvic shape to a snail.
Ceylan, Ahmet Cevdet, Esen, Tuna Eren, Uzun, Özlem Ünal, ÜNAL UZUN, ÖZLEM   +3 more
core   +1 more source

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis

Orphanet Journal of Rare Diseases
Background Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, Pierre Karam, Valérie Cormier-Daire   +4 more
doaj   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

, 2016
Purpose: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia.
Ok-Hwa Kim, Kim, Sang Cheol, Jeong, Changhoon, Moon Seok Park, Tae-Joon Cho, Sang Cheol Kim, Song, Hae-Ryong, Hey Ran Lee, Chin Youb Chung, Woong-Yang Park, Won Joon Yoo, In Ho Choi, Cho, Tae-Joon, Nayoung K.D. Kim, Jun-Seok Bae, Lee, Hey Ran, Chung Lee, Lee, Chung, Changhoon Jeong, Kim, Ok-Hwa, Ha Yong Kim, Soon Hyuck Lee, Kim, Ha Yong, Soon Chul Lee, Park, Woong-Yang, Kun Bo Park, Lee, Soon Hyuck, Hyun Woo Kim, Kim, Nayoung K. D., Park, Kun Bo, Choi, In Ho, Park, Moon Seok, Bae, Jun-Seok, Chung, Chin Youb, Lee, Soon Chul, Yoo, Won Joon, Kim, Hyun Woo, Hae-Ryong Song   +37 more
core   +2 more sources

Anauxetic dysplasia: A rare clinical entity

The Turkish Journal of Pediatrics, 2018
Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional clinical features.
Özlem Akgün-Doğan, Pelin Özlem Şimsek-Kiper, Gülen Eda Utine, Koray Boduroğlu   +3 more
doaj   +1 more source