leri - weill 's dyschondrosteosis ( lwd ) is anautosomal dominant condition with variable penetrance characterized by mesomelic short stature and with madelung deformity .
it is due to deletion or mutation in short stature homeobox ( shox ) gene . here
, there is deficient growth of a volar and ulnar aspect of distal radialphysis , triangulation of corpus with proximal and volar shift of the lunate .
a 13-year - old girl referred to us with a history of deformity of bilateral forearm from the age of 5 to 6 years .
there was no history of pain in the joint of hands , trauma to the wrist and no history of similar illness in the family .
patient was moderately built and significantly short for her age [ figure 1 ] . with height of 130 cm ( less than 3 percentile ) .
upper segment was 69 cm , lower segment was 61 cm , weight of 35 kg and body mass index of 20.71 kg / m .
secondary sexual characteristic tanner - whitehouse staging - b4 ( breast ) , p4 ( pubic hair ) , a3 ( axillary hair ) her elder brother had normal height for age and no any hand deformities and so were her parents .
investigation showed hemoglobin of 12.5 g / dl , liver function test and renal function test were normal ca= 9.0 mg / dl alkaline phosphates 260 iu and phosphorus = 3.5 mg / dl .
x - ray bilateral wrist showed malformed medial radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of madelung deformity [ figure 2 ] .
her ultrasound abdomen showed no hepatomegaly or splenomegaly and had normal sized uterus and ovary x - ray spine and x - ray elbow were normal [ figure 3 ] .
her luteinizing hormone = 1.1 miu / ml follicle stimulating hormone = 2.4 miu / ml and karyotype was normal as was urine mucopolysaccharide screening .
x - ray bilateral wrist based on the history , clinical examination , and investigations findings , the final diagnosis of lwd as a cause of madelung deformity was made .
it is the most common cause of mesomelic deformity and is inherited as an autosomal dominant trait with variable penetrance .
it is often seen in girls and becomes apparent in late childhood or early adolescence .
madelung deformity , beside is also found in turner 's syndrome , pseudohypoparathyroidism , mucopolysaccharidosis and achondroplasia of distal radial epiphysis .
madelung deformity was first described by malgaigne in 1885 and later by madelung in 1878 as a spontaneous forward subluxation of the hand .
madelung deformity is an ulnar and dorsal curvature of the distal radius due to deficient growth of the volar and ulnar aspect of distal radialphysis , increased inclination of the distal radial joint surface , triangulation of the corpus with proximal and volar migration of and a prominent dorsal subluxation of ulnar head .
recently , two subtypes of madelung deformity have been described , one with short stature and mesomelia consistent with lwd and the other with severe involvement of the entire radius with limited range of motion of extremity , markedly bowed appearance of the forearm and conspicuous radiographic deformity of the forearm and distal radius .
the pathogenesis of lwd is linked to deletion or mutation in shox gene , present in the pseudoautosomal region of the sex chromosomes - xp23 and yp11 .
in early human embryos it is expressed in the developing limbs ( particular elbow , knee , distal radius / ulnar and wrist ) as well as first and second pharyngeal arches and plays an important role in bone growth as well as development .
shox gene is also associated with short stature in turner 's syndrome and also some causes of growth retardation like lws and langers mesomelic dysplasia .
management is usually conservative . persistent pain and or severe deformity call for orthopedic surgery involving radial osteotomy .
in addition , ulnar shortening in skeletally immature patient or excision of distal ulnar head in skeletally mature patients are done .
surgical prophylaxis by distal resection of the abnormal part of distal radial epiphysis and its replacement by autologous fat ( also known as physeolysis ) has recently been shown to restore growth and minimized deformity .
growth hormone supplementation is found to increase final height in turner 's syndrome , lws but not in langers mesomelic dysplasia .
hand deformity is corrected by orthopedic surgery and for shox gene related short stature food and drug administration has recently approved growth hormone therapy .
 madelung deformity is a rare inherited disorder associated with endocrine disorders like turner 's syndrome , pseudohypoparathyroidism , but can be seen with short stature homeobox deficiency conditions such as leri - weill dyschondrosteosis ( lwd ) and langers mesomelic dysplasia . 
 it has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis ( mps ) and achondroplasia . 
 madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna . 
 a 13-year - old girl was referred to us for evaluation of bilateral deformity of wrist and short stature . 
 there was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness . 
 on x - ray , wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of madelung deformity . 
 x - ray spine was normal . 
 ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone . 
 luteinizing hormone was normal and so was urine mps screening . based on the above points the diagnosis of lwd was made . 