Kabuki make‐up syndrome: a review

N Matsumoto, N Niikawa - … Journal of Medical Genetics Part C …, 2003 - Wiley Online Library
Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown
cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal …

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association

JE Ming, KL Russell, L Bason… - American journal of …, 2003 - Wiley Online Library
Abstract Kabuki (Niikawa–Kuroki) syndrome is associated with growth retardation,
developmental delay, congenital heart disease, cleft palate, and characteristic facial …

The Kabuki syndrome: four patients with oral abnormalities

D Petzold, E Kratzsch, C Opitz… - The European Journal of …, 2003 - academic.oup.com
The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki
syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide …

Patient with Kabuki syndrome and acute leukemia

S Scherer, U Theile, V Beyer, R Ferrari… - American journal of …, 2003 - Wiley Online Library
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often
involves recurrent infections. There is cumulative evidence of an immunodeficiency in …

Interpreting images: diagnostic skill in the genetics clinic

A Shaw - Journal of the Royal Anthropological Institute, 2003 - Wiley Online Library
The diagnosis of rare genetic disorders involves classifying patients on the basis of clinical
understandings of the relationship between visible, measurable characteristics (the …

Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy

A Ogawa, S Yasumoto, Y Tomoda… - Journal of child …, 2003 - journals.sagepub.com
Kabuki make-up syndrome is a mental retardation—malformation syndrome affecting
multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental …