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Case Reports
. 2021 Jul 23;9(7):e04492.
doi: 10.1002/ccr3.4492. eCollection 2021 Jul.

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Alireza Razavi  1 , Hamed Jafarpour  1 , Mohammad Reza Khosravi  1 , Ghazal Abbasi  1 , Abbas Dabbaghzadeh  2
Affiliations
Case Reports

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Alireza Razavi et al. Clin Case Rep. .

Abstract

Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

Keywords: Cohen syndrome; mutation; petechiae.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

FIGURE 1
FIGURE 1
Immunoglobins and Cluster of Differentiation (CD Markers) levels at 16th month
FIGURE 2
FIGURE 2
Thick forehead hair prominent upper central incisors, thick and long eyelashes in CS patient
FIGURE 3
FIGURE 3
Tiny petechial spots on her lower limbs in CS patient
See this image and copyright information in PMC

References

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