A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): a variant of the cerebellotrigeminal dermal dysplasia?

Sullo, Federica; Palmucci, Stefano; Polizzi, Agata; Ruggieri, Martino; Praticò, Andrea D

Sullo, Federica; Palmucci, Stefano; Polizzi, Agata; Ruggieri, Martino; Praticò, Andrea D.

Affiliation

Sullo F; Pediatrics Postgraduate Residency Program, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine.
Palmucci S; Unit of Radiodiagnostic and Radiology, Department of Medical and Surgical Sciences and Advanced Technologies.
Polizzi A; Chair of Pediatrics, Department of Educational Sciences.
Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.
Praticò AD; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.

Clin Dysmorphol ; 29(4): 202-206, 2020 Oct.

Article in En | MEDLINE | ID: mdl-32657848

Subject(s)

Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/genetics; Alopecia/diagnosis; Alopecia/genetics; Cerebellum/abnormalities; Coloboma/diagnosis; Coloboma/genetics; Craniofacial Abnormalities/diagnosis; Craniofacial Abnormalities/genetics; Growth Disorders/diagnosis; Growth Disorders/genetics; Neurocutaneous Syndromes/diagnosis; Neurocutaneous Syndromes/genetics; Phenotype; Trigeminal Ganglion/abnormalities; Biopsy; Brain/abnormalities; Brain/diagnostic imaging; Child, Preschool; Comparative Genomic Hybridization; Exons; Female; Genome, Mitochondrial; Humans; Magnetic Resonance Imaging; N-Acetylglucosaminyltransferases/genetics; Polymorphism, Single Nucleotide; Rhombencephalon; Whole Genome Sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Cerebellum / Coloboma / Trigeminal Ganglion / Craniofacial Abnormalities / Neurocutaneous Syndromes / Alopecia / Growth Disorders Limits: Child, preschool / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2020 Document type: Article Country of publication: United kingdom

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