Skip to main content

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.