DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION(MRA/MR)

Davide Vecchio, Pietro Salvago, Ettore Piro, Francesco Martines, Valeria Consiglio, Antonella Serena Chiara Ballacchino, Cinzia Sanfilippo, Emanuela Salzano, Francesco Paolo Graziano

Risultato della ricerca: Articlepeer review

5 Citazioni (Scopus)

Abstract

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmentalcauses, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disordersare rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosedlate with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). Thediagnosis is essential to program complex and integrated care interventions (follow-up programs aimed at early detection of anydisease associated with different syndromes) and to carry out proper genetic family counseling (risk of recurrence, prenatal diagnosis,detection of heterozygotes etc).
Lingua originaleEnglish
pagine (da-a)321-325
Numero di pagine5
RivistaActa Medica Mediterranea
Volume29
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

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