Data di Pubblicazione:
2007
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.
Tipologia CRIS:
14.a.1 Articolo su rivista
Keywords:
Kabuki make-up syndrome; Niikawa–Kuroki syndrome
Elenco autori:
SALPIETRO DAMIANO, Carmelo; Guarneri, Fabrizio Nicola Giuseppe; Rigoli, Luciana Concetta; Briuglia, Silvana; Guarneri, Claudio; Vaccaro, M.
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