| Autor: |
Altaf, Mir Tariq, Kandagaddala, Madhavi, Selina, Agnes, Madhuri, Vrisha |
| Předmět: |
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| Zdroj: |
JBJS Case Connector; Jan-Mar2024, Vol. 14 Issue 1, p1-7, 7p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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