The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

[kabuki syndrome]

Niikawa-Kuroki syndrome (Kabuki syndrome ) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity . The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait . Five year and half old boy from Kazakhstan (Uzbek -of Turk ethnicity ) presented with dysmorphic facial features (long palpebral fissures , a broad and depressed nasal tip , large prominent earlobes , small head , epicanthic folds short stature , delayed language development , hypotonia , bilateral developmental dysplasia of the hip (DDH ), large ears and triangular chin , café au lait spots . The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures , a broad and depressed nasal tip , large prominent earlobes , small head ), growth retardation , (DDH ). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots .

Diseases
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Diseases presenting "wide spectrum" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

classical phenylketonuria

focal myositis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

primary hyperoxaluria type 1

proteus syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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