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The Niikawa‐Kuroki (Kabuki make‐up) syndrome in a Moslem Arab child
Author(s) -
Gillis R.,
Klar A.,
GrossKieselstein E.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03599.x
Subject(s) - kabuki , medicine , kabuki syndrome , psychomotor retardation , pediatrics , psychomotor learning , hypospadias , dermatology , surgery , pathology , psychiatry , art , alternative medicine , cognition , visual arts
The Niikawa‐Kuroki “Kabuki Make‐Up” syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2‐year‐old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make‐up syndrome. This is the fifth reported case of this syndrome in a non‐Japanese patient, and the second reported case in a patient of Arab descent.