and Ledoux-Lebard initially characterized osteopoikilosis in 1915.
Osteopoikilosis (also known as Albers-Schonberg
disease, spotted bone disease, or osteopathia condensans disseminata) is a rare, usually asymptomatic bone disorder with an incidence of 1 in 50 000.
It was first described by Albers-Schonberg
, a century ago who named it "marble bone disease".
In 1907, Albers-Schonberg
described a rare developmental disorder,  in which excessive radiographic density of most or all of the bones of skeleton.
However, precise differentiation between intermediate- and late-onset autosomal dominant (AD) osteopetrosis (Albers-Schonberg
disease) is not possible.
It was first described in 1904 by a German radiologist Albers-Schonberg
; hence, the disease also gets the name Albers-Schonberg
The first reference in the literature about osteopoikilosis dates from 1905, written by Stieda [9, 14]; the main characteristics were described in 1915 by Albers-Schonberg
, a German radiologist who also described osteoporosis [8, 10].
disease) is a hereditary disease, manifesting during childhood (autosomal-recessive form) or adolescence (autosomal-dominant form).
disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Type II autosomal dominant osteopetrosis (Albers-Schonberg
disease): clinical and radiological manifestations in 42 patients.
Osteopetrosis was first described by a German radiologist, Albers-Schonberg
, in 1904.
("The Pharmaceutical Discovery Process"), B.