Results 1 to 10 of about 698 (166)

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis [PDF]

Acta Obstetricia et Gynecologica Scandinavica
Introduction Fetal skeletal abnormalities can be caused by various factors and genetic cause plays an important role. Prenatal exome sequencing (ES) has been shown to be a powerful approach for accurate prenatal molecular diagnoses.
Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen   +6 more
doaj   +3 more sources

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses [PDF]

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa   +2 more
exaly   +4 more sources

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review [PDF]

Radiology Case Reports, 2021
Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD   +4 more
doaj   +5 more sources

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES [PDF]

Acta Ortopédica Brasileira
Mucopolysaccharidoses (MPS) are lysosomal storage diseases characterized by the improper accumulation of glycosaminoglycans due to genetic deficiencies in specific enzymes. This accumulation leads to progressive cellular and tissue dysfunction, affecting
Marcos Almeida Matos, Paloma Silva Lopes
doaj   +2 more sources

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations [PDF]

Molecular Genetics and Metabolism Reports, 2023
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide
Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien   +13 more
doaj   +2 more sources

Genetic Disorders of Bone or Osteodystrophies of Jaws—A Review [PDF]

Global Medical Genetics, 2021
Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins.
Sirisha Vammi, Jaya Lakshmi Bukyya, Anulekha Avinash CK, M. L. Avinash Tejasvi, Archana Pokala, Chanchala HP, Priyanka Talwade, Praveen Kumar Neela, T. K. Shyamilee, Mary Oshin, Veenila Pantala   +10 more
doaj   +2 more sources

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes. [PDF]

Front Pediatr, 2023
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH.   +23 more
europepmc   +3 more sources

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

Wiley Interdisciplinary Reviews: Developmental Biology, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Paul A Trainor, Jill Dixon, Michael J Dixon   +2 more
exaly   +3 more sources

Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses [PDF]

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Bony ankylosis of the temporomandibular joints (TMJ) occurs in up to 28% of patients with syndromic mandibular dysostoses. Release of complete osseous ankylosis is particularly challenging due to the lack of tissue planes separating the ...
Daniel Bradley, MD, Thomas Willson, MD, Jessica B. Chang, MD, Brad Gandolfi, MD, Tian Ran Zhu, MD, James P. Bradley, MD, Justine C. Lee, MD, PhD   +6 more
doaj   +2 more sources

Characterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis. [PDF]

J Craniofac Surg
BACKGROUND: Robin sequence (RS) is a congenital condition and constitutes the triad of micrognathia, glossoptosis, and upper airway obstruction. While micrognathia is a cardinal feature of RS, its assessment is largely subjective.
El Ghoul K, O' Sullivan E, Guntaka PK, van Heesch GG, Joosten KFM, Pullens B, Khonsari RH, Resnick CM, van de Lande LS, Wolvius EB.   +9 more
europepmc   +4 more sources