A 4-year old boy, the only son of healthy, nonconsanguineous parents without a significant family history, was referred to our clinic. Pregnancy had been complicated by missed abortion and decrease in fetal movements, and he was born at term with prolonged labor, resulting in perinatal distress. At birth, his weight was 4 kg (75th centile), height 51 cm (50th centile), head circumference 35 cm(50th centile), and Apgar score was 5 at first minute and 8 at fifth minute; he had general hypotonia, prolonged icterus, and feeding difficulties. Laboratory and instrumental examinations (standard karyotype and FRAXA, nervous system imaging, metabolic and hormonal studies, TORCH, total body radiograph, ophthalmologic examination) performed successively, within the first year of life, gave no remarkable results. The psychomotor development of the patient was delayed: hewas able to walk unsupported at about 15 months of age, and pronounced his first monosyllabes at 24 months. He was very susceptible to respiratory infections.
What syndrome is this? Kabuki make-up syndrome (Niikawa-Kuroki syndrome)
SALPIETRO DAMIANO, Carmelo;GUARNERI, Fabrizio Nicola Giuseppe;RIGOLI, Luciana Concetta;BRIUGLIA, Silvana;GUARNERI, Claudio;VACCARO M.
2007-01-01
Abstract
A 4-year old boy, the only son of healthy, nonconsanguineous parents without a significant family history, was referred to our clinic. Pregnancy had been complicated by missed abortion and decrease in fetal movements, and he was born at term with prolonged labor, resulting in perinatal distress. At birth, his weight was 4 kg (75th centile), height 51 cm (50th centile), head circumference 35 cm(50th centile), and Apgar score was 5 at first minute and 8 at fifth minute; he had general hypotonia, prolonged icterus, and feeding difficulties. Laboratory and instrumental examinations (standard karyotype and FRAXA, nervous system imaging, metabolic and hormonal studies, TORCH, total body radiograph, ophthalmologic examination) performed successively, within the first year of life, gave no remarkable results. The psychomotor development of the patient was delayed: hewas able to walk unsupported at about 15 months of age, and pronounced his first monosyllabes at 24 months. He was very susceptible to respiratory infections.Pubblicazioni consigliate
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