Disease: Franceschini Vardeu Guala syndrome
- Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease
- Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome
- Monozygotic twinning and Wiedemann-Beckwith syndrome
- Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?
- Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum
- The Williams syndrome: an Italian collaborative study
- Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18
- Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature