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Rare Case of Rhizomelic Chondrodysplasia Punctata
#MMPMID27299065
Mahale Y
; Kadu VV
; Chaudhari A
J Orthop Case Rep
2015[Jul]; 5
(3
): 38-40
PMID27299065
show ga
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease.
It impairs the normal development of many parts of the body. The features of this
disorder include bony abnormalities, severe mental retardation, joint
contractures, cataract and recurrent respiratory infections and breathing
problems. Seizures and Distinctive facial features including prominent forehead,
depressed nasal bridge and small nose is also associated with this pathology.
Being rare, this is very difficult to diagnose when presented at OPD. Proper
history and meticulous examination is extremely necessary. Our aim is to discuss
current knowledge on etiopathogenesis as well as radiological and clinical
symptoms of diseases associated with RCDP. CASE REPORT: 5 yrs old male child
presented with chest infection and periarticular swelling of all the small and
large joints. The patient was walking with limp. History elicited that the child
was born of a consanguineous marriage. The child was delivered at home. Birth
weight was 2.4 kgs. He repeatedly had upper respiratory tract infections and was
taking treatment for the same. He was further investigated in the form of
clinical, biochemical and radiological assessment which stated that the patient
was suffering from RCDP. CONCLUSION: This is a rare presentation. Though this is
not curable, management of RCDP is symptomatic and supportive and may include
physiotherapy and orthopedic procedures (in later stages) to improve function.
The child may also undergo cataract surgery to improve vision.
free
free
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