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

Autor:	Hovra Zahoor, Arthur Lee, Deena Godfrey, Gena Heidary, Gerard T. Berry, Alcy Torres, Elizabeth C. Engle
Rok vydání:	2021
Předmět:	Heart Defects Congenital Pediatrics medicine.medical_specialty Contracture Apraxias Gene mutation Duane Retraction Syndrome Article Jaw Abnormalities Exome Sequencing Blepharoptosis Humans Medicine Global developmental delay Child Genetics (clinical) Exome sequencing Arthrogryposis Ophthalmoplegia Arthrogryposis multiplex congenita Reflex Abnormal business.industry Intracellular Signaling Peptides and Proteins Nuclear Proteins Genetic Diseases X-Linked Marcus Gunn phenomenon medicine.disease Magnetic Resonance Imaging Muscular Atrophy Ophthalmology Codon Nonsense Mutation Pediatrics Perinatology and Child Health Female Nervous System Diseases medicine.symptom Presentation (obstetrics) business
Zdroj:	Ophthalmic Genet
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2021.1923040
Popis:	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 and 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 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd804b0341a497ef708f17a902f1011 https://doi.org/10.1080/13816810.2021.1923040 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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