Pseudoachondroplasia: a case report.

[achondroplasia]

Pseudoachondroplasia (PSACH ) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein . It is characterized by rhizomelic dwarfism , limb and vertebral deformity , joint laxity and early onset osteoarthrosis . We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents .A 6 .5 -year -old girl presented with short-limbed dwarfism (body height 79 .5 cm , < P 5 ;-32 %) and normal craniofacial appearance and intelligence . The girl was normal until 3 months of age when she expressed growth retardation with apparently shorter extremities in relation to the torso . With age , her rhizomelic dwarfism became increasingly visible , and since completed 15 months of age , when she started to walk , the disease was complicated with genu varum , lumbar lordosis and abnormal gait . Beside visibly short forearms , short , broad and ulnar deviation of the hands , brachydactyly and joint hyperlaxity , the radiographic picture showed markedly flared metaphyses , small and irregular epiphyses and poorly formed acetabulum .PSACH is an achondroplasia -like rhizomelic dwarfism recognized by the absence of abnormality at birth , normal craniofacial appearance , characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity .

Diseases
Validation

Diseases presenting "growth retardation" symptom

achondroplasia

alpha-thalassemia

aromatase deficiency

cystinuria

dentin dysplasia

dentinogenesis imperfecta

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

pyruvate dehydrogenase deficiency

triple a syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated