Premature birth is frequent. Patients have a mild
degree of short stature. Clinical features involve the eyes (astigmatism,
abnormal corneal structure with mild dysplastic changes in the corneal
epithelium, photophobia with burning/blurring of the eyes), the teeth (early
dental decay and fragility secondary to abnormal softness), the skin
(erythematous scaly skin, onychodysplasia and/or onycholysis, palmoplantar
acanthosis, hyperkeratosis), and the limbs (brachydactyly, terminal
hypoplasia of the fingers, shortening of the fourth metacarpal and anomalies
of the metacarpal heads, medullary narrowing of the hand bones).