Forabosco et al., 1988 [9] | Courtens et al., 2001 [1] | Rodriguez et al., 2002 [10] | Present case | ||||
---|---|---|---|---|---|---|---|
Case 1 | Case 2 | Case 3 | Case 1 | Case 2 | |||
Age | Newborn | Newborn | 7 months | Fetus - 9 wks | Newborn | 5 months | 2 years and 4 months |
Sex | F | M | F | F | F | F | F |
Cytogenetic result | |||||||
- Trisomy | 7q21-qter | 7q21-qter | 7q22-qter | 7q21.2-qter | 7q21.2-qter | 7q21.2-qter, 15p | 7q22.1-qter |
- Monosomy | 5p14-pter | 13q33-qter | 1qter | 21p12-pter | 4q35-qter | – | 14q32.3-qter |
- Parent | t(5;7)mat | t(7;13)pat | t(1;7)mat | t(7;21)mat | t(4;7)pat | t(7;15)mat | t(7;14)mat |
Delivered at (weeks) | 41 | 39 | 32 | Termination | 37 + 6 days | 40 | 35 + 2 days |
Birth weight | 2200 g | 2850 g | 1950 g | (271 g) | 1940 g | 2.700 g | 1500 g |
Newborn respiratory distress | + | + | + | NA | + | + | + |
Hypotonia | + | + | + | + | |||
Microcephaly | + | + | |||||
Wide fontanelles | + | + | + | + | + | ||
High forehead | + | + | + | + | |||
Prominent occiput | + | + | |||||
Other skull anomalies | Asymmetry | Scaphocephaly | |||||
Triangular face | + | + | |||||
Hypertelorism | + | + | + | + | + | + | |
Flat/wide nasal bridge | + | + | + | + | + | + | |
Down slanting eyes | + | + | + | + | + | ||
Other eye anomalies | L/Anoph-thalmia | Micro-ophthalmia | Retinal changes | ||||
Low-set ears | + | + | + | + | + | + | |
Malformed ears | + | + | + | + | |||
Small nose | + | + | + | + | + | ||
Micro/retrognathia | + | + | + | + | + | + | + |
Macroglossia | + | + | + | ||||
Cleft palate | + | + | + | + | |||
High arched palate | + | ||||||
Short neck | + | + | + | + | + | + | |
Low hairline | + Posterior | + Anterior | |||||
Clinodactyly | + | + | |||||
Skeletal deformities | Clubfoot | Scoliosis | Calcaneovarus | ||||
Cardiovascular defects | L/S SVC | PDA, HCM | |||||
CNS malformations | +a | +b | +c | +d | +e | ||
Abnormal EEG/ Seizures | + | + | |||||
GI malformations | Malrotation | Complexf | |||||
Mental retardation | NA | NA | + | NA | NA | + | + |
Survival | 38 h | 23 h | 7 months | Termination | 2 days | 11½ months | Alive |