Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

Diana Carli, Tracy Fairplay, Paola Ferrari, Silvana Sartini, Mario Lando, Lorenzo Garagnani, Giovanni Luigi Di Gennaro, Luciana Di Pancrazio, Giorgia Bianconi, Amira Elmakky, Sergio Bernasconi, Antonio Landi, Antonio Percesepe

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012. METHODS: Medical records of 487 patients were retrospectively reviewed. On the basis of clinical, anamnestic, and genetic data, the CULA were distributed into two main groups: (1) non-Mendelian etiology, including prenatal exposure, somatic mutations and amniotic bands; and (2) Mendelian etiology, including single gene and genomic/chromosomal diseases. CULA were further grouped according to the embryological damage (formation, separation and growth defects) and to the involved axis (radial, ulnar, central). RESULTS: A Mendelian etiology was diagnosed in 199 patients (40.9%), whereas the remaining 288 cases (59.1%) were described as non-Mendelian. The involvement of the lower limbs, the presence of malformations in other organs and facial dysmorphisms were significantly more represented in the Mendelian cases. The formation defects were significantly more frequent in the non-Mendelian group (p

Original languageEnglish
Pages (from-to)798-805
Number of pages8
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Issue number12
Publication statusPublished - Dec 2013


  • Congenital upper limb anomalies
  • Genetic syndrome
  • Genetic testing
  • Mendelian disorder
  • Recurrence risk

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology


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