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Humerus Varus in a Patient with Pseudohypoparathyroidism

Cho TJ, Choi IH, Chung CY, Yoo WJ, Yang SW

A 7-yr-old girl presented with progressive shortening of the right upper arm and limitation of shoulder motion. Pseudohypoparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed by biochemical, hormonal and radiographic...
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Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

Jin HS, Song HY, Cho SY, Ki CS, Yang SH, Kim OH, Kim SJ

No abstract available.
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A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11...
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