European Journal of Human Genetics

FIGURE 4

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Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Solange Heuertz, Martine Le Merrer, Bernhard Zabel, Michael Wright, Laurence Legeai-Mallet, Valérie Cormier-Daire, Linda Gibbs and Jacky Bonaventure

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Figure 4.

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Clinical features of patient 2. (a) Patient 2 at the age of 6 months presenting as ACH with rhizomelic dwarfism, macrocephaly with midface hypoplasia, thoracolumbar kyphosis, short trident hands and mild hypotonia. (b and c) At the age of 3.5 years, an HCH phenotype has developed with normal craniofacial features (b), small stature with relatively short upper arms and thighs and lumbar hyperlordosis (c).

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