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Table 2 Prevalence of congenital abnormalities in FTGCT individuals, first degree relatives, and normal school age children (%)

From: Familial testicular germ cell tumor: no associated syndromic pattern identified

 

FTGCT (N = 38)

1st degree relatives (N = 41)

Normal population (N = 923)

Major abnormality

   

Short stature (proportionate)

0

0

2.0

Cleft lip

0

0

0

Cleft palate

0

0

0

Ear tags

0

0

0.3

Ear pits

2.6

0

1.1

Webbed neck

0

0

0

Supernumerary nipples

2.6

2.4

2.8

Talipes equinovarus

0

0

0

2,3 toe syndactyly

0

2.4

0.4

Joint hypermobility

0

0

10.3

Joint contractures

0

0

0

Minor variant

   

Tall stature (proportionate) p = 0.05 ††

7.9

2.4

2.0

Macrocephaly* p = 0.01 ††

11.1

4.9

2.0

Microcephaly

2.6

0

2.0

Abnormal hair whorl

0

0

0.1

Widow’s peak

5.3

2.4

6.7

Coarse face

2.6

2.4

0.5

Prominent forehead

0

0

2.4

Facial asymmetry p < 0.01 ††††

5.3

9.8

1.6

Flat mid-face p < 0.01 †††

23.7

2.4

1.0

Hypertelorism

0

0

2.0

Hypotelorism

0

0

2.0

Telecanthus

0

0

0.4

Upslanting palpebral fissures

2.6

2.4

3.9

Downslanting palpebral fissures

5.3

2.4

0.8

Epicanthal folds

2.6

0

3.5

Ptosis

0

2.4

4.4

Broad nose

0

2.4

1.1

Short nose

2.6

0

9.3

Broad nasal tip

5.3

7.3

2.6

Anteverted nares

0

0

4.2

Hypoplastic alae nasae

0

0

0.7

Smooth philtrum

0

0

5.3

Prominent philtrum

5.3

0

1.8

Prominent upper jaw

0

0

2.1

Retro-/micrognathia p = 0.04 ††

7.9

4.9

1.7

Prominent lower jaw

0

0

0.3

Pointed chin

2.6

2.4

0.7

High-arched palate

2.6

4.9

6.2

Bifid uvula

0

0

0

Extra frenulae

0

0

0

Abnormally shaped teeth

2.6

0

1.6

Lowset ears

0

0

0.5

Posteriorly rotated ears

2.6

4.9

1.4

Overfolded helices

7.9

4.9

4.1

Darwinian tubercle

5.3

0

4.6

Ear lobe crease

2.6

2.4

0

Attached ear lobes

2.6

2.4

12.8

Pectus excavatum

5.3

7.3

2.3

Pectus carinatum

0

2.4

0.3

Gynecomastia

0

0

0.1

Absent/hypoplastic nipples

0

0

0

Wide-spaced nipples

2.6

0

0.4

Inverted nipples

2.6

0

4.1

Bridged palmar crease

0

2.4

2.7

Single transverse crease

0

2.4

2.3

Sydney crease

0

0

0.3

Clinodactyly

0

0

3.6

Partial 2,3 toe syndactyly

0

2.4

0.3

Hammer toes

2.6

0

0.2

2nd toe longer than 1st

7.9

7.3

3.1

Pes planus

0

2.4

2.6

Café-au-lait spots

13.2

12.2

13.5

Hemangiomas

2.6

2.4

0.7

Port wine stain

2.6

0

0.2

  1. ††Between FTGCT individuals and normal population.
  2. †††Between FTGCT individuals and normal population and FTGCT individuals and relatives.
  3. ††††Between relatives and normal population.
  4. *36 FTGCT individuals measured.