Kabuki syndrome: a review
MP Adam, L Hudgins - Clinical genetics, 2005 - Wiley Online Library
Kabuki syndrome (KS)(Kabuki make‐up syndrome, Niikawa–Kuroki syndrome) is a multiple
malformation/mental retardation syndrome that was described initially in Japan but is now …
malformation/mental retardation syndrome that was described initially in Japan but is now …
Immune abnormalities are a frequent manifestation of Kabuki syndrome
JD Hoffman, KL Ciprero, KE Sullivan… - American journal of …, 2005 - Wiley Online Library
Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic
features include long palpebral fissures with everted lower lids, prominent ears, skeletal …
features include long palpebral fissures with everted lower lids, prominent ears, skeletal …
Further delineation of Kabuki syndrome in 48 well‐defined new individuals
L Armstrong, AAE Moneim, K Aleck… - American Journal of …, 2005 - Wiley Online Library
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study
of Kabuki syndrome had two objectives. The first was to further describe the syndrome …
of Kabuki syndrome had two objectives. The first was to further describe the syndrome …
Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management
CTRM Schrander‐Stumpel, L Spruyt… - American Journal of …, 2005 - Wiley Online Library
Abstract The Kabuki syndrome, or Niikawa–Kuroki syndrome, is a clinically recognizable
syndrome of unknown etiology. Clinical findings include early hypotonia, joint laxity …
syndrome of unknown etiology. Clinical findings include early hypotonia, joint laxity …
Neonatal phenotype in Kabuki syndrome
KK Vaux, L Hudgins, LM Bird, E Roeder… - American Journal of …, 2005 - Wiley Online Library
The Kabuki syndrome is a well‐established pattern of human malformation with readily
recognizable features, however the diagnosis is rarely made in the newborn period. The …
recognizable features, however the diagnosis is rarely made in the newborn period. The …
Symptomatic Chiari I malformation in Kabuki syndrome
KL Ciprero, J Clayton‐Smith, D Donnai… - American Journal of …, 2005 - Wiley Online Library
Abstract Kabuki (Niikawa–Kuroki) syndrome is associated with a characteristic facial
appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain …
appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain …
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients
JJM Engelen, WH Loneus… - American Journal of …, 2005 - Wiley Online Library
Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia
and joint laxity, developmental delay, persistent fetal fingertip pads, and structural …
and joint laxity, developmental delay, persistent fetal fingertip pads, and structural …
K abuki Syndrome
L Hudgins - Management of Genetic Syndromes, 2005 - Wiley Online Library
Kabuki syndrome (Kabuki makeup syndrome, Niikawa‐Kuroki syndrome) is a multiple‐
malformation syndrome characterized by distinctive facial features (long palpebral fissures …
malformation syndrome characterized by distinctive facial features (long palpebral fissures …
[引用][C] Structural central nervous system (CNS) anomalies in Kabuki syndrome
T Ben‐Omran, AS Teebi - … Journal of Medical Genetics Part A, 2005 - Wiley Online Library
Kabuki make-up syndrome (KMS)[MIM147920] is a rare multiple congenital
anomalies/mental retardation (MCA/MR) syndrome originally described by Niikawa et …
anomalies/mental retardation (MCA/MR) syndrome originally described by Niikawa et …