LEOPARD syndrome with rare skeletal anomalies: A case report

X-ray left hip revealed shallow left acetabular head with superior migration of femoral head confirming the clinical impression of shortened left lower limb [Figure 3]a. Radiograph of the right wrist joint showed malalligned first metacarpals and phalanges whereas that of the left wrist showed absen...

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Bibliographic Details
Published in:Indian journal of dermatology 2013-09, Vol.58 (5), p.411-411
Main Authors: Kohli, Sonali, Sharma, Yugal, Dash, Kedar, Kopikar, Radhika, Chaudhari, Nitin
Format: Article
Language:English
Subjects:
Care and treatment
Case studies
Diagnosis
E-Correspondence
LEOPARD syndrome
Mutation
Patient outcomes
Risk factors
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Summary:X-ray left hip revealed shallow left acetabular head with superior migration of femoral head confirming the clinical impression of shortened left lower limb [Figure 3]a. Radiograph of the right wrist joint showed malalligned first metacarpals and phalanges whereas that of the left wrist showed absent first phalanges consistent with the history of amputation [Figure 3]b. Left-to-right shunt along with moderate sized PDA (4 mm) was detected on echocardiography. [1] It is an autosomal dominant disorder caused by a missense mutation in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q22.
ISSN:0019-5154
1998-3611
DOI:10.4103/0019-5154.117362