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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the…
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A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

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Paternal UPD14 is responsible for a distinctive malformation complex.

Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex.
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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

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Standard growth curves for Japanese patients with Prader-Willi syndrome.

Short stature is more prominent in boys of both ethnic groups, whereas the degree of overweight appears much more severe in Caucasians, which is more pronounced in male than in female patients.
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DNA deletion and its parental origin in Angelman syndrome patients.

Results were consistent with the genomic imprinting hypothesis for the occurrence of AS, i.e., the lack of a maternally derived locus leads to AS, but may not support a model that AS is the alternative phenotype of PWS at the identical locus.
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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS, and the parents of five patients did not show a deletion of RT1, indicating a de novo rearrangement.
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Dominant inheritance of Kabuki make-up syndrome.

Analysis of 2 families with Kabuki make-up syndrome indicates that the condition is an autosomal dominant inheritance with variable expressivity.
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Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

HP due to del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks apparent complications like cardiac anomaly, and should be closely followed up for auto-immune complications.
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Epilepsy in childhood down syndrome

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