Clinical features
• Severe short stature (-6 to -10SD)
• Brachydactyly
• Skin laxity
• Joint hypermobility
• Joint dislocations
• Motor or cognitive delay which may vary in severity
• Sparse scalp hair in some patients
• Pectus excavatum in some patients
• Generalised hypotonia
Radiographic features:
• Short and broad metacarpals and phalanges
• Mild but variable metaphyseal irregularities in hands and knees
• Platyspondyly in some of the patients
• Flattened acetabular roof
• Narrow acetabular angle
Prognosis
All the affected individuals had severe short stature. Some of them had motor and cognitive delay.
NEPRO