title: A morpho-etiological description of congenital limb anomalies.
abstract: BACKGROUND
  Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis.
  
  
  METHODS
  In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations.
  
  
  RESULTS
  Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology.
  
  
  CONCLUSIONS
  The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.
authors.affiliation: Genetics Unit, Anatomy Department, Alexandria Faculty of Medicine, Alexandria, Egypt. tayelshaw@yahoo.com
authors.forename: S M
authors.initials: SM
authors.lastname: Tayel
authors.forename: M M
authors.initials: MM
authors.lastname: Fawzia
authors.forename: Niran A
authors.initials: NA
authors.lastname: Al-Naqeeb
authors.forename: Said
authors.initials: S
authors.lastname: Gouda
authors.forename: S A
authors.initials: SA
authors.lastname: Al Awadi
authors.forename: K K
authors.initials: KK
authors.lastname: Naguib
mesh_terms: D004781:Environmental Exposure / Q000009:adverse effects; D030342:Genetic Diseases, Inborn / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000145:classification* / Q000175:diagnosis / Q000209:etiology; D012189:Retrospective Studies; D013577:Syndrome