A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report

<p dir="ltr">Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includ...

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Bibliographic Details
Main Author: Muhammad Sheraz Hameed (22282597) (author)
Other Authors: Maimoona Maheen (22282600) (author), Sauban Mansoor Sadiq (22282603) (author), Umer Farooq (1607068) (author), Abdur Rehman (11154) (author), Arham Ihtesham (22225537) (author), Imran Khan (109715) (author), Shahzaib Maqbool (21842465) (author), Javed Iqbal (2121922) (author)
Published: 2025
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Paediatrics
acrodysostosis
brachydactyly
nasal hypoplasia
pseudohypoparathyroidism
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