F Franchi

Publications (3)1.58 Total impact

• Article: Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

  L Garavelli, S Pedori, R Dal Zotto, F Franchi, M Marinelli, G F Croci, S Bellato, A Ammenti, R Virdis, G Banchini, A Superti-Furga
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  ABSTRACT: Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.
  Genetic counseling (Geneva, Switzerland) 02/2006; 17(4):449-55. · 0.50 Impact Factor
• Article: Liver abnormalities and portal hypertension in Ullrich-Turner syndrome.

  L Garavelli, A Donadio, G Banchini, G Fornaciari, A C Plancher, F Franchi, G Gardini
  American Journal of Medical Genetics 12/1998; 80(2):180-2.
• Source

  Available from: Vito Di Lernia

  Article: Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis.

  E Guareschi, L Garavelli, S Pedori, V Di Lernia, L Grenzi, F Franchi, M Marinelli, G F Croci, E Pedretti, Sergio Amarri, G Banchini, Giuseppe Albertini
  Pediatric Dermatology 24(4):426-8. · 1.07 Impact Factor