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 journalArticle

8 Citations (Scopus)

Abstract

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
Volume97
Issue number12
DOIs
Publication statusPublished - Dec 2013

Fingerprint

Upper Extremity
Amniotic Band Syndrome
Medical Records
Lower Extremity
Hand
Mutation
Growth
Genes

Keywords

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

ASJC Scopus subject areas

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

Cite this

Genetic Basis of Congenital Upper Limb Anomalies : Analysis of 487 Cases of a Specialized Clinic. / Carli, Diana; Fairplay, Tracy; Ferrari, Paola; Sartini, Silvana; Lando, Mario; Garagnani, Lorenzo; Di Gennaro, Giovanni Luigi; Di Pancrazio, Luciana; Bianconi, Giorgia; Elmakky, Amira; Bernasconi, Sergio; Landi, Antonio; Percesepe, Antonio.

In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 97, No. 12, 12.2013, p. 798-805.

Research output: Contribution to journalArticle

Carli, D, Fairplay, T, Ferrari, P, Sartini, S, Lando, M, Garagnani, L, Di Gennaro, GL, Di Pancrazio, L, Bianconi, G, Elmakky, A, Bernasconi, S, Landi, A & Percesepe, A 2013, 'Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic', Birth Defects Research Part A - Clinical and Molecular Teratology, vol. 97, no. 12, pp. 798-805. https://doi.org/10.1002/bdra.23212
Carli, Diana ; Fairplay, Tracy ; Ferrari, Paola ; Sartini, Silvana ; Lando, Mario ; Garagnani, Lorenzo ; Di Gennaro, Giovanni Luigi ; Di Pancrazio, Luciana ; Bianconi, Giorgia ; Elmakky, Amira ; Bernasconi, Sergio ; Landi, Antonio ; Percesepe, Antonio. / Genetic Basis of Congenital Upper Limb Anomalies : Analysis of 487 Cases of a Specialized Clinic. In: Birth Defects Research Part A - Clinical and Molecular Teratology. 2013 ; Vol. 97, No. 12. pp. 798-805.
@article{9e51e30b283641919cd0f58f0ce94e82,
title = "Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic",
abstract = "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",
keywords = "Congenital upper limb anomalies, Genetic syndrome, Genetic testing, Mendelian disorder, Recurrence risk",
author = "Diana Carli and Tracy Fairplay and Paola Ferrari and Silvana Sartini and Mario Lando and Lorenzo Garagnani and {Di Gennaro}, {Giovanni Luigi} and {Di Pancrazio}, Luciana and Giorgia Bianconi and Amira Elmakky and Sergio Bernasconi and Antonio Landi and Antonio Percesepe",
year = "2013",
month = "12",
doi = "10.1002/bdra.23212",
language = "English",
volume = "97",
pages = "798--805",
journal = "Teratology",
issn = "1542-0752",
publisher = "Wiley-Liss Inc.",
number = "12",

}

TY - JOUR

T1 - Genetic Basis of Congenital Upper Limb Anomalies

T2 - Analysis of 487 Cases of a Specialized Clinic

AU - Carli, Diana

AU - Fairplay, Tracy

AU - Ferrari, Paola

AU - Sartini, Silvana

AU - Lando, Mario

AU - Garagnani, Lorenzo

AU - Di Gennaro, Giovanni Luigi

AU - Di Pancrazio, Luciana

AU - Bianconi, Giorgia

AU - Elmakky, Amira

AU - Bernasconi, Sergio

AU - Landi, Antonio

AU - Percesepe, Antonio

PY - 2013/12

Y1 - 2013/12

N2 - 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

AB - 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

KW - Congenital upper limb anomalies

KW - Genetic syndrome

KW - Genetic testing

KW - Mendelian disorder

KW - Recurrence risk

UR - http://www.scopus.com/inward/record.url?scp=84890337400&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84890337400&partnerID=8YFLogxK

U2 - 10.1002/bdra.23212

DO - 10.1002/bdra.23212

M3 - Article

C2 - 24343878

AN - SCOPUS:84890337400

VL - 97

SP - 798

EP - 805

JO - Teratology

JF - Teratology

SN - 1542-0752

IS - 12

ER -