Results 31 to 40 of about 6,534 (202)
Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
Oman Journal of Ophthalmology, 2023 Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
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Nursing Children and Young People, 2016 Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
Doreen, Crawford, Annette, Dearmun
openaire +3 more sources
Achondroplasia: Craniofacial manifestations and considerations in dental management
Saudi Dental Journal, 2010 Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include ...
Afnan Al-Saleem, Asma Al-Jobair
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Hearing loss in Norwegian adults with achondroplasia
, 2021 Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy.
Savarirayan, Ravi +14 more
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Neuroimaging and calvarial findings in achondroplasia
, 2020 Achondroplasia is the most common hereditary form of dwarfism and is characterized by short stature, macrocephaly and various skeletal abnormalities. The phenotypic changes are mainly related to the inhibition of endochondral bone growth.
Sarioglu, FATMA CEREN +2 more
core +1 more source
A STUDY OF ACHONDROPLASIA [PDF]
Archives of Pediatrics and Adolescent Medicine, 1920 INTRODUCTION Ita P. appeared in the orthopedic outpatient department of the Children's Hospital for treatment because of a "bunch" on her back. As usual, a roentgen-ray examination was made. The plates showed widely separated vertebral bodies with a peculiar wedge-shaped vertebra at the point of the "bunch." As this did not seem to be due to any of ...
openaire +1 more source
Journal of Obstetric Anaesthesia and Critical Care, 2020 Achondroplasia is a genetic disorder where there is underdevelopment and shortening of the long bones formed by endochondral ossification without abnormalities of cartilage formation.
Youssef Motiaa +3 more
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Optimal management of complications associated with achondroplasia [PDF]
, 2014 Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact ...
Pacey, Verity +11 more
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Anesthesia Management in Achondroplasia: A Case Report
Archives of Anesthesia and Critical Care, 2021 Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast growth factor. This abnormality results in malformation endochondral ossification.
Houman Teymourian +5 more
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Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source