Ann Lab Med.  2017 Jan;37(1):92-94. 10.3343/alm.2017.37.1.92.

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

• KMID: 2373624
• DOI: http://doi.org/10.3343/alm.2017.37.1.92

Abstract

No abstract available.

MeSH Terms

Bone Diseases, Developmental/diagnosis/drug therapy/*genetics
Child
Fibrillin-1/*genetics
Hand/diagnostic imaging
Heterozygote
Human Growth Hormone/therapeutic use
Humans
Limb Deformities, Congenital/diagnosis/drug therapy/*genetics
Male
Pelvis/diagnostic imaging
Fibrillin-1
Human Growth Hormone

Figure

• 

  Fig. 1 Radiographs of the patient with acromicric dysplasia. (A) Both hands at 11 yr of age show delayed carpal bone age, estimated to around 8 yr of age. (B) Pelvis shows small iliac bone with flat and shallow acetabuli and coxa valga of the femora.

• 

  Fig. 2 Growth chart of the patient. Growth retardation was remarkable, and after growth hormone (GH) treatment, growth velocity increased to 5.4 cm/year.

Reference

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