Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
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Dear Editor, Acromicric dysplasia (AD, MIM 102370) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, and mild facial dysmorphism [1]. The radiological manifestations of AD include delayed bone age, cone-shaped epiphyses, internal notch of the femoral head, short metacarpals, and short phalanges [2]. Recently, missense mutations clustered in exons 41 and 42 in the transforming growth factor-β binding-protein-like domain 5 (TB5) of FBN1 were identified as causative mutations for AD [2, 3]. Here, we present the clinical and radiographic findings and effects of recombinant human growth hormone (rhGH) treatment for 3.5 yr in a child with AD, which was confirmed by identification of a novel mutation in FBN1.
Abstract
Dear Editor, Acromicric dysplasia (AD, MIM 102370) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, and mild facial dysmorphism [1]. The radiological manifestations of AD include delayed bone age, cone-shaped epiphyses, internal notch of the femoral head, short metacarpals, and short phalanges [2]. Recently, missense mutations clustered in exons 41 and 42 in the transforming growth factor-β binding-protein-like domain 5 (TB5) of FBN1 were identified as causative mutations for AD [2, 3]. Here, we present the clinical and radiographic findings and effects of recombinant human growth hormone (rhGH) treatment for 3.5 yr in a child with AD, which was confirmed by identification of a novel mutation in FBN1.
참고문헌 (10)
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