Fig. 1: Clinical information of the family members. | Human Genome Variation

Fig. 1: Clinical information of the family members.

From: A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Fig. 1

A Growth chart of the proband. Heights and weights are shown as black points. B X-ray of the proband’s left hand. Mild shortening of the 4th and 5th metacarpals and shortening of the 1st distal phalanx are shown. The bone age was interpreted as 8 years and 10 months using the Greulich and Pyle method. C X-ray of the proband’s feet. Cone-shaped epiphyses of the left 1st and 4th metatarsals and large epiphyses of the 5th distal phalanges are shown. D, E Lumbar spine X-rays of the proband’s mother and maternal grandmother. Narrowed intervertebral spaces and endplate irregularities are shown. F Pedigree of the studied family. The arrow indicates the proband (III-3). The family members with short stature carrying ACAN mutations are indicated with filled symbols. Ages and heights in standard division score are reported below each symbol.

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