[…] of elbow extension, hyper extensibility of knees, trident hand, normal cognitive function, rhizomelic shortening, frontal bossing, and mid face hypoplasia Gene: FGFR3 Inheritance
[quizlet.com]
The vertebrae may have coronal clefts and scoliosis often develops. Generalized metaphyseal dysplasia and delayed bone age are usually present.
[disorders.eyes.arizona.edu]
MR, seizures, microcephaly Gene: FGFR3 (4p16.3) Inheritance: AD, mostly de novo (paternal age effect) Clinical feats: most common form of short limb dwarfism; lordosis, limitation
[quizlet.com]