A case of Barber‐Say syndrome in a male Japanese newborn
Author:
Affiliation:
1. Department of Pediatrics Tokushima Prefectural Central Hospital Tokushima Japan
2. Department of Ophthalmology Tokushima Prefectural Central Hospital Tokushima Japan
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.128
Reference13 articles.
1. Barber-Say syndrome in a father and daughter
2. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.
3. Ablepharon-Macrostomia syndrome-Extension of the phenotype
4. Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say Syndrome
5. Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
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1. Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber–Say syndrome;Pediatric Dermatology;2023-10-10
2. Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report;Archivos de la Sociedad Española de Oftalmología (English Edition);2019-04
3. Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso;Archivos de la Sociedad Española de Oftalmología;2019-04
4. Barber-say syndrome: a confirmed case of TWIST2 gene mutation;Clinical Case Reports;2017-06-02
5. Transmission of Barber–Say syndrome from a mosaic father to his child in an Indian family;Clinical Dysmorphology;2016-10
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