Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.

Ezgi Mollaoğlu, Dilek Uludağ Alkaya, Ceren Ayça Yıldız, Buşra Kasap, Beyhan Tüysüz

Clinical genetics 2023 May

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Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD. We detected biallelic novel variant (c.1635-1G > C) in PRKG2 in two brothers with mild to severe short stature, short limbs, cubitus varus, and brachydactyly. Radiological examination showed platyspondyly with anterior beaking of the vertebral bodies, stubby long bones with metaphyseal flaring and moderate brachydactyly with cone-shaped epiphyses of the middle and proximal phalanges. Upper limb proportions of the older brother were clinically classified as rhizomelic, however radiologic findings supported acromesomelia, along with the elbow limitation. Annual follow-ups of the older brother from the age of 5 to 20 years revealed progression of short stature with age but platyspondyly and anterior beaking became less conspicuous. The younger brother showed milder short stature and less conspicuous disproportion of the limbs than those of the older brother; however, platyspondyly and anterior beaking were more prominent on the radiographs obtained at the same age. In conclusion, this report provides new insights into the natural history of AMD type PRKG2 confirming the intrafamilial heterogeneity. © 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Ezgi Mollaoğlu, Dilek Uludağ Alkaya, Ceren Ayça Yıldız, Buşra Kasap, Beyhan Tüysüz. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2. Clinical genetics. 2023 May;103(5):574-579