Results 1 to 10 of about 62,388 (273)

Skeletal Dysplasia: A Case Report [PDF]

Diagnostics, 2023
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman’s first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a ...
Nicolae Gică, Gabriela Mîrza, Corina Gică, Anca Maria Panaitescu, Anca Marina Ciobanu, Gheorghe Peltecu, Iulia Huluță   +6 more
doaj   +2 more sources

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia [PDF]

JBMR Plus, 2023
The skeletal dysplasias are a heterogeneous group of genetic conditions caused by abnormalities of growth, development, and maintenance of bone and cartilage.
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober   +6 more
doaj   +2 more sources

Skeletal Dysplasias [PDF]

Clinics in Perinatology, 2015
The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and ...
Kuldeep Singh, Abhay Elhence
  +7 more sources

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2022
Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes.
Hwa Young Kim, Jung Min Ko
doaj   +1 more source

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Frontiers in Genetics, 2023
Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants
Francisca Diaz-Gonzalez, Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Manuel Parrón-Pajares, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Karen E. Heath, Karen E. Heath, Karen E. Heath   +15 more
doaj   +1 more source

Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

Frontiers in Pediatrics, 2023
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare condition. The diagnosis could be challenging due to its rarity and non-specific presenting symptoms.
Joshua Chun Ki Chan, Evelyn Eugenie Kuong, Evelyn Eugenie Kuong, Joyce Pui Kwan Chan, Joyce Pui Kwan Chan, Ho Ming Luk, Jasmine Lee Fong Fung, Joanna Yuet-ling Tung, Joanna Yuet-ling Tung, Brian Hon Yin Chung, Brian Hon Yin Chung   +10 more
doaj   +1 more source

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Orphanet Journal of Rare Diseases, 2021
Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT).
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober   +8 more
doaj   +1 more source

What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer

Frontiers in Pediatrics, 2023
Children with skeletal dysplasia are frequently referred to pediatric endocrinologists due to short stature. These children may present with disproportionate growth or medical histories that point to a skeletal dysplasia. This primer will discuss when to
Janet M. Legare, Donald Basel
doaj   +1 more source

Frequency of skeletal dysplasia in children with short stature presenting to endocrine clinic: An observational study

Journal of Family Medicine and Primary Care, 2022
Objective: To determine the frequency of skeletal dysplasia in children with short stature presenting to the endocrine clinic of a tertiary care hospital.
Seema, Saira Abbas, Muhammad Nadeem Ahsan, Muhammad Sohaib Asghar   +3 more
doaj   +1 more source

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Frontiers in Genetics, 2021
Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400 genes that are presently known to cause monogenic skeletal diseases.
Alice Costantini, Helena Valta, Anne-Maarit Suomi, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Fulya Taylan, Fulya Taylan   +8 more
doaj   +1 more source