In:
American Journal of Medical Genetics Part A, Wiley, Vol. 176, No. 11 ( 2018-11), p. 2382-2388
Abstract:
We present a natural history of a 32‐year‐old man with Hajdu‐Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH 2 (c.6424‐6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years). During follow‐up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragility fractures also suggested primary osteoporosis being a clinical manifestation. According to Stengel‐Rutkowski, Schimanek, and Wernheimer (1984; Human Genetics , 6 , 272–295), systematic data acquisition has been used for quantitative analysis of anthropological, radiographic, and clinical features at childhood, adolescence, and young adulthood separately. A detailed phenotype description together with the results of reanalysis of 14 reports so far published on patients with HJCYS and NOTCH 2 mutation showed similar phenotype evolution with age. The spectrum of observed features may improve diagnostic tools for HJCYS at different periods of the lifespan.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v176.11
DOI:
10.1002/ajmg.a.40431
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
1493479-6
SSG:
12
