Chondrodysplasia punctata, tibial-metacarpal type

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A rare non-rhizomelic chondrodysplasia punctata syndrome characterized radiologically by stippled calcifications and disproportionate short metacarpals and tibiae (with characteristic overshoot of the proximal fibula) clinically manifesting with severe short stature bilateral shortening of upper and lower limbs flat midface and nose in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones platyspondyly and/or vertebral clefts.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Chondrodysplasia punctata, tibial-metacarpal type?

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