Pagine elettroniche ; Caso Contributivo
1SC di Neonatologia e Terapia Intensiva Neonatale,
2SC di Genetica Medica, IRCCS “Burlo Garofolo”, Trieste
*Attualmente SC Centro Coordinamento Regionale Malattie Rare, Azienda Ospedaliero-Universitaria “Santa Maria della Misericordia”, Udine
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Key words: Pallister-Killian syndrome, 12p tetrasomy, Iroquois Indians hair, Hyper pigmentation lines
The careful classification of a psychomotor delay in an infant is often a difficult task for paediatricians. Many hospital admissions for clinical, instrumental and laboratory investigations, are often needed, even though an exact diagnosis is not always reached. In some cases, however, the presence of a few very distinctive clinical features may allow for a prompt diagnosis and induce the paediatrician to choose the best diagnostic tools to confirm the clinical picture. We report one case of Pallister-Killian syndrome with mental retardation, streaks of hyper-pigmentation, and facial anomalies, including prominent forehead with sparse anterior scalp hair.
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