Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US
نویسندگان
چکیده
منابع مشابه
Achondroplasia.
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...
متن کاملWeight for age charts for children with achondroplasia.
To develop accurate weight for age charts for individuals with achondroplasia. These novel weight for age, gender-specific growth curves for achondroplasia patients from birth through 16 years were constructed from a longitudinal, retrospective, single observer cohort study of 334 individuals with achondroplasia. Weight for age data from 301 subjects in this achondroplasia cohort, constituting ...
متن کاملGrowth of Head Circumference, Weight and Height from Birth to 18 Months in the South of Iran
Background: Assessing the growth of infants is a main parameter in their health assessment. Thus, we have studied the growth condition of children from born to 18 months in this research in Bandar Abbas, Iran, 2015. Methods: In this descriptive study, we have selected 104 case records from the dataset of health center number 8 of BandarAbbas by means of simple randomized sampling. All data abou...
متن کاملHereditary Achondroplasia in the Rabbit
Pathological observations on hereditary achondroplasia in the rabbit have been described. At autopsy, the chief features of interest are: reduced size with disproportionately shortened extremities and large head, cutaneous and subcutaneous edema of variable degree and distribution, small shortened bones with a cartilaginous appearance and texture, immature teeth, and cleft palate in one-fourth ...
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2022
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.19.5.8