Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti

Author:

Soltirovska Salamon Aneta1,Lichtenbelt Klaske2,Cowan Frances M3,Casaer Alexandra4,Dudink Jeroen56,Dereymaeker Anneleen7,Paro-Panjan Darja1,Groenendaal Floris6,de Vries Linda S6

Affiliation:

1. Department of Neonatology; University Children's Hospital; University Medical Center; Ljubljana Slovenia

2. Department of Genetics; Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands

3. Department of Paediatrics; Imperial College London; London UK

4. Department of Neonatology; AZ St. Jan Bruges-Ostend AV; Bruges Belgium

5. Department of Neonatology and Radiology; Erasmus Medical Center Sophia; Rotterdam

6. Department of Neonatology; Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands

7. Department of Neonatology; University Hospitals Leuven; Leuven Belgium

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Reference31 articles.

1. Prevalence and incidence of rare diseases: bibliographic data http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

2. Scheuerle A Ursini MV Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) Seattle, WA University of Washington http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=i-p

3. Incontinentia pigmenti (Bloch-Sulzberger syndrome);Landy;J Med Genet,1993

4. Neurological findings in incontinentia pigmenti; a review;Meuwissen;Eur J Med Genet,2012

5. Incontinentia pigmenti diagnostic criteria update;Minić;Clin Genet,2014

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