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Niikawa-Kuroki (Kabuki) syndrome in two siblings.
Frediani, T; Lucarelli, S; Bruni, L.
Affiliation
  • Frediani T; Department of Pediatrics, University of Rome La Sapienza, Rome, Italy. tufredi@tin.it
Minerva Pediatr ; 53(1): 43-8, 2001 Feb.
Article in En | MEDLINE | ID: mdl-11309542
The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone and Bones / Craniofacial Abnormalities / Growth Disorders / Joints / Intellectual Disability Type of study: Diagnostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Minerva Pediatr Year: 2001 Document type: Article Affiliation country: Country of publication:
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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone and Bones / Craniofacial Abnormalities / Growth Disorders / Joints / Intellectual Disability Type of study: Diagnostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Minerva Pediatr Year: 2001 Document type: Article Affiliation country: Country of publication: