The patients may present with disproportionate short stature, macrocephaly, lumbar lordosis, rhizomelic and mesomelic
shortness and brachydactyly (1,2).
Although none of the 7 with NPR2 heterozygosity had the classic Madelung deformity, reported skeletal features included mesomelic
limb shortening, cone shaped epiphyses, cubitus valgus, short 5th phalanges and short 4th metacarpals, and/or brachydactyly.
Skeletal abnormalities include vertebral malsegmantation, short stature, marked mesomelic
limb shortening, rib fusion and hemivertebrae (5).
Leri is associated with Melorheostosis, "candle bone disease", a rare disorder of bone (Leri-Joanny syndrome), Leri- J-E Weill syndrome (a skeletal dysplasia combining dorsal subluxation of the distal end of the ulna (Madelung deformity) with mesomelic
short stature), and Leri sign (a pyramidal sign, or joint reflex seen in spastic hemiplegia) and Leri's disease-paroxysmal pain precipitated by exposure to cold and high humidity.
Rafay suffers from acro coxo mesomelic
dysplasia, a rare inherited form of dwarfism, and is the only one in his family to have this condition.
It is characterized by mesomelic
limb shortening, acral synostoses, and multiple congenital malformations .
Also noted was a rhizomelic and mesomelic
shortening of all extremities with palpable osseous deformities secondary to enchondromas, especially of the shoulders, hands, and lower extremities.
In this report, we discuss a 14-year-old girl with mesomelic
short stature and bilateral Madelung deformities caused by LWD and describe the radiographic findings.
limb shortness: a previously unreported autosomal recessive type.
Leri-Weill disease, which has been described as a dyschondrosteosis, is a rare syndrome causing mesomelic
shortening of the limbs.
Dysplasias affecting the distal bones (eg, the tibia/fibula and radius/ ulna) cause mesomelic
She had frontal bossing, hypertelorism, and bilateral mesomelic
short upper extremities.