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Table 1 Birth defects with conclusive or presumed (*) diagnosis and etiology

From: Birth defects in newborns and stillborns: an example of the Brazilian reality

Diagnosis Number of cases Etiology
  Newborns Stillborns  
Multiple Defects 10 5 U
Congenital Heart Disease 9   G/E
Down Syndrome 9   G
Gastroschisis 8   G/E
Neural Tube Defects 7   G/E
Foot-clubfoot 5   G/E
Amniotic Band Sequence 4   U
Disruption by Diabetes 3   E
Edwards Syndrome 2 1 G
Orofacial Ccenter 3   G/E
Association VATERR 2   U
Esophageal Atresia 2   G/E
Fetal Alcohol Syndrome 2   E
Lung Cystic Adenomatous Malformation 2   U
Polydactyly (OMIM 603596) 2   G
Velocardiofacial Syndrome (OMIM 192430)* 2   G
Anorectal anomaly 1   G/E
Atelosteogenesis Type III (OMIM 108721)* 1   G
Biliary Atresia Extrahepatic (OMIM 210500) 1   U
Campomelic Dysplasia (OMIM 114290) 1   G
Camptodactyly (OMIM 114200) 1   G
Caudal Dysplasia Sequence 1   E
Colpocephaly   1 G/E
Congenital Aplasia Cutis (OMIM 107600) 1   G
Dandy-Walker (OMIM 22020) 1   G
Defects by Autosomal Recessive Inheritance* 1   G
DiGeorge syndrome (OMIM 188400) 1   G
Distal Arthrogryposis (OMIM 601680) 1   G
Duodenal atresia 1   U
Hypochondroplasia (OMIM 146000) 1   G
Imperforate Anus 1   G/E
Larsen Syndrome (OMIN 150250) 1   G
Laterality Sequence 1   U
Limb Body Wall Complex 1   U
Meckel Diverticulum 1   G/E
Möebius Sequence 1   U
Oculo-Auriculo-Vertebral Spectrum 1   U
Omphalocele 1   G/E
Patau Syndrome 1   G
Penoscrotal Hypospadia 1   G/E
Pfeiffer syndrome (OMIM 101600)* 1   G
Polythelia (OMIM 163700) 1   G
Prune Belly Syndrome (OMIM 100100) 1   G
Syndrome Barber-Say (OMIM 209885)* 1   G
Thanatophoric Dysplasia Type II (OMIM 187601) 1   G
Thoracic Dystrophy 1 (Jeune) (OMIM 208500) 1   G
Townes Brocks Syndrome (OMIM 107480) 1   G
X-Linked Hydrocephalus (OMIM 307000) 1   G
  1. E = environmental.
  2. G = genetic factors
  3. G/E = genetic factors or in combination with environmental factors.
  4. U = unknown.