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Deformities of the skull in children: clinical markers of the polymalformative syndromes

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: T. Marcovici, I. Sabau, I. Simedrea, M. Puiu

Editorial: European Journal of Human Genetics, 2005.


Craniostenosis is defined as a premature closure of cranial sutures. The incidence of primary craniostenosis aproximates 1 per 2,000 births. The cause may be chromosomial abnormalities, genic anomalies or multifactorial. Most cases of craniostenosis are evident at birth.
Matherials and methods: Four cases with congenital deformities of the skull are presented, two males and two females, aged 3-18 months.
Results: By clinical examination, X-ray films and CT scans of the skull was found scaphocephaly in two cases, turricephaly in one case and right parieto-occipital plagiocephaly in one case. Cortical atrophy and mental retardation and were present in all cases. Optic atrophy and seizures were found in two cases. Facial dysmorphism and kidney defects were present in two cases. Heart defects were associated in one case. Just in one case craniotomy was performed.
Conclusions: In 50% of cases the diagnosis was made after 1 year of age and just 25% of cases were operated. Without an early diagnosis and surgical correction of the deformities the growth of skull is inhibited and brain is serious damaged.

Cuvinte cheie: skull, craniostenosis, plurimalformative syndrome