Authors : Dr. Mrudula R; Dr. B.K.D. Prasad; Dr. Akanksh Chokkapu

Volume/Issue : Volume 10 - 2025, Issue 6 - June

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Google Scholar : https://tinyurl.com/bdzx67s5

DOI : https://doi.org/10.38124/ijisrt/25jun1833

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Abstract : Hypochondroplasia (HCH), a mild skeletal dysplasia, presents with disproportionate short stature and subtle radiological features, often overlapping with achondroplasia and other dysplasias. Radiographic skeletal surveys are the primary diagnostic tool, revealing shortened long bones, narrowed lumbar interpedicular distances, and squared ilia. Prenatal ultrasound aids early detection, though definitive diagnosis is challenging due to phenotypic variability and the absence of a pathognomonic sign. This pictorial review synthesizes HCH’s imaging features in a single patient, emphasizing differentiation through illustrative figures and diagnostic pearls, guiding radiologists in accurate diagnosis and management.

Keywords : Hypochondroplasia, Skeletal Dysplasia, Radiology, Skeletal Survey, Achondroplasia, Differential Diagnosis, Adult Radiology.

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