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 | Â | Â | Â |
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 | Â | Â | Â |
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 |