Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges

ABSTRACT Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, stan...

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Bibliographic Details
Main Authors: Bruno Pellozo Cerqueira, Elenice Andrade Milhomem, Ana Cristina Carvalho de Matos, Igor Gouveia Pietrobom, Carlos Magno Leprevost, Ita Pfeferman Heilberg
Format: Article
Language:English
Published: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2025-02-01
Series:Einstein (São Paulo)
Subjects:
Kabuki syndrome
CHARGE syndrome
KMT2D
Hypoparathyroidism
Genetic testing
Diagnosis, differential
Choanal atresia
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082025000100501&lng=en&tlng=en
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