Results 81 to 90 of about 848 (140)

What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer. [PDF]

Front Pediatr, 2023
Legare JM, Basel D.
europepmc   +1 more source

Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up

, 2013
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands ...
FERLISI, Annalisa, MAGGIO, Maria Cristina, SERRAINO, Francesca, Collura M, COSTA, Anna, Pardo F, FICILI, Francesca   +6 more
core  

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports. [PDF]

Ann Med Surg (Lond), 2023
Shrestha AB, Chapagain S, Umar TP, Yadav RS, Shrestha S, Bhandari K, Sedai R, Poudel A, Mahat C, Sharma S, Bhandari A.   +10 more
europepmc   +1 more source

DiseaseOntology/HumanDiseaseOntology: DO March 2024 Release

<p>This release includes 11,537 disease terms; 8,419 SubClassOf axioms. The addition of 26 new disease terms. This month the DO was updated, we added Peroxisome biogenesis disorder and dystonia subtypes, reclassified Zellweger syndrome subtypes ...
Chris Mungall, andrawaag, Sue Bello, Melody Swen, Claudia Sánchez-Beato Johnson, J. Allen Baron, lschriml, Anu, Becky Jackson, jbmunro, James A. Overton, Elvira   +11 more
core   +1 more source

Thanatophoric Dysplasia Type I Confirmed by Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation: Clinical Course and Ethical Considerations. [PDF]

Cureus
Soares MI, Veríssimo P, Coelho C, Branco RA, Marçal M.   +4 more
europepmc   +1 more source

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report. [PDF]

Cureus
Mesbah K, Ettoini K, Khabbach K, El Boussaadni Y, Oulmaati A.   +4 more
europepmc   +1 more source

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 more
europepmc   +1 more source

Displasia tanatofórica en diagnóstico prenatal, un reporte de caso

<p>Las displasias esqueléticas conforman un grupo heterogéneo de malformaciones óseas que dan lugar a un tamaño y forma atípicos y anómalos del esqueleto.
Carlos Vicente Miranda Caceres
core   +1 more source

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient. [PDF]

Mol Syndromol
Kocagil S, Gölcür H, Aynacı S, Çilingir O.   +3 more
europepmc   +1 more source

Displasia tanatofórica en un embarazo gemelar: Hallazgos prenatales y revisión de la literatura

, 2017
La displasia tanatofórica es una forma letal de displasia esquelética con hallazgos ultrasonográficos típicos que se pueden identificar poco antes de la semana 20 de gestación.
Martínez Villarreal, Laura, Ambriz López, Roberto, Esmer Sánchez, Carmen, Martínez Mendoza, Araceli, Arteaga Alcaraz, Georgina, Campos Acevedo, Daniel   +5 more
core