Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome-Reference-Cited by-同舟云学术

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome

Published:2023-01 Issue:1 Volume:14 Page:
ISSN:2160-3251
Container-title:JBJS Case Connector
language:en
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Author:

Altaf Mir Tariq¹^ORCID,Kandagaddala Madhavi²^ORCID,Selina Agnes¹³^ORCID,Madhuri Vrisha¹³^ORCID

Affiliation:

1. Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India

2. Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India

3. Centre for Stem Cell Research, Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India

Abstract

Case: Bohring-Opitz syndrome is characterized by facial dysmorphism, intellectual disability, specific upper-limb posturing, and developmental delay. We report a case of 14-year-old girl with bilateral hip pain and loss of mobility. Clinical exome sequencing showed a proband with a heterozygous pathogenic nonsense variant in ASXL1 gene. Conclusion: The Perthes-like clinical and radiological features in the hip and the absence of classical upper-limb features are a new phenotype and hence presented here.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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4. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome;Hoischen;Nat Genet.,2011

5. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance;Russell;Am J Med Genet A.,2015