Table 1. Clinical findings of individuals homozygous for HYAL2 mutations.
| FAMILY 1 | FAMILY 2 | ||||||
|---|---|---|---|---|---|---|---|
| XII:3 | XII:5 | XII:7 | XII:9 | XII:12 | V:3 | VI:2 | |
| GENDER | Male | Male | Female | Female | Male | Female | Female |
| HYAL2 MUTATION | c.443A>G | c.443A>G | c.443A>G | c.443A>G | c.443A>G | c.749C>T | c.749C>T |
| AGE (YRS) | 12.3 | 15.5 | 4.3 | 9.9 | 12.7 | 7.1 | 12.3 |
| GROWTH | |||||||
| Height (SDS) | -0.54 | 0.45 | -1.07 | 0.29 | -0.4 | -2.87 | -2.87 |
| Head circumference (SDS) | -0.67 | -0.22 | -0.28 | -0.49 | -1.6 | -3.13 | -2.59 |
| SKELETON | |||||||
| Pectus excavatum | - | ✓ | ✓ | - | ✓ | - | ✓ |
| CRANIOFACIAL FEATURES | |||||||
| Cleft lip and palate | Bilateral CLP | RT unilateral CLP | Bilateral CLP | Bilateral CLP | Bilateral CLP | None | Bilateral CLP |
| Frontal bossing | Not known | Not known | ✓ | - | ✓ | - | - |
| Hypertelorism | ✓ | ✓ | ✓ | ✓ | ✓ | ||
| Micrognathia | ✓ | ✓ | ✓ | ✓ | ✓ | ||
| Broad flat nasal bridge | ✓ | ✓ | ✓ | ✓ | ✓ | ||
| Ears | - | Over folded superior helices | - | Cupped ears | Cupped ears | ||
| HEART | |||||||
| Congenital cardiac malformations | LT cor triatriatum | Dilated coronary sinus consistent with persistent LSVC | Normal echocardiogram | Dilated coronary sinus consistent with persistent LSVC | Normal echocardiogram | Abnormal MV with accessory tissue | Normal echocardiogram |
| Small restrictive perimembranous VSD covered with tricuspid aneurysmal tissue | |||||||
| Other cardiac abnormalities | Thickened AV | Dilated LT and RT atria | Mild TR | ||||
| Restricted RT aortic leaflet | Lt-Rt shunt | ||||||
| Mild AR | Mildly dilated LV | ||||||
| EYES | |||||||
| Visual acuity | Glasses since age 2 | Glasses since age 6 | Normal | Glasses since age 9 | Glasses since age 9 | Glasses since age 3 | Glasses since age 4 |
| RT myopia -8.00 | RT myopia -1.50 | RT myopia -2.50 | RT myopia -16.75 | RT myopia -9.75 | |||
| LT hyperopia +3.25 | LT hyperopia +1.75 | LT myopia -2.50 | LT myopia -15.00 | LT myopia -16.00 | |||
| Other ocular abnormalities | Rt staphyloma | Cortical lens opacities and staphyloma with small disc | Corneal opacity | ||||
| Myopic macular degeneration | - | - | - | - | High myopia | ||
| Posterior subcapsular polar cataract/ Mittendorf dot | Flat retina | ||||||
| Staphyloma and LT retinal scar | |||||||
| HEARING | |||||||
| Conductive hearing loss | RT moderate | - | Bilateral mild | - | LT moderate | RT Mild | - |
| Postlingual | Prelingual | ||||||
| Sensorineural hearing loss | - | Bilateral severe to profound | - | - | - | - | - |
| Prelingual | |||||||
| LT cochlear implant | |||||||
| NORMAL PSYCHOMOTOR DEVELOPMENT | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| HANDS AND FEET | Not known | Not known | Single palmar crease - LT hand | Bilateral single palmar creases | Bilateral single palmar creases | Bilateral single palmar creases | |
| Bilateral 2-3 and 3-4 skin syndactyly of toes | Bilateral 2-3 and 3-4 skin syndactyly of toes | Bilateral 2-3 skin syndactyly of toes | Broad thumbs | ||||
| Acromelia | |||||||
Abbreviations; SDS, standard deviation scores; (✓), indicates presence of a feature in an affected subject; (-), indicates presence of a feature in an affected subject); CLP, Cleft lip and palate; RT, Right; LT, Left; AV, Aortic valve; AR, Aortic regurgitation; LSVC, Left superior vena cava; LV, Left ventricle; VSD, Ventricular septal defect; TR, Tricuspid regurgitation; LV, Left ventricle