1. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
- Author
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Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, and Engle E
- Subjects
- Apraxias genetics, Arthrogryposis diagnosis, Blepharoptosis diagnosis, Child, Codon, Nonsense, Contracture genetics, Duane Retraction Syndrome diagnosis, Female, Genetic Diseases, X-Linked genetics, Heart Defects, Congenital diagnosis, Humans, Jaw Abnormalities diagnosis, Magnetic Resonance Imaging, Muscular Atrophy genetics, Nervous System Diseases diagnosis, Ophthalmoplegia genetics, Exome Sequencing, Apraxias diagnosis, Arthrogryposis genetics, Blepharoptosis genetics, Contracture diagnosis, Duane Retraction Syndrome genetics, Genetic Diseases, X-Linked diagnosis, Heart Defects, Congenital genetics, Intracellular Signaling Peptides and Proteins genetics, Jaw Abnormalities genetics, Muscular Atrophy diagnosis, Mutation, Nervous System Diseases genetics, Nuclear Proteins genetics, Ophthalmoplegia diagnosis, Reflex, Abnormal genetics
- Abstract
Background : Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-recognized clinical presentation of the Wieacker-Wolff Syndrome. Patient and methods : We report a 7-year-old female with dysmorphic features, global developmental delay, arthrogryposis multiplex congenita (AMC), Duane retraction syndrome (DRS), and unilateral Marcus Gunn jaw winking. Results : Whole Exome Sequencing showed a de novo premature stop codon in ZC4H2. Extensive genetic and metabolic work was negative otherwise and Brain MRI showed delayed non-specific myelination abnormalities. She continues to have significant delays but does not have regression, seizures or other neurological complications. She has required a multidisciplinary approach for the management of her multiple contractures. Conclusion : This case confirms ZC4H2 as a cause of syndromic DRS and extends the ZC4H2 phenotype to include Marcus Gunn jaw winking.
- Published
- 2021
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