Comparison of clinical and phenotypic features between Cornelia de Lange syndrome and in Pds5B−/− mice
| . | CdLSa (%) . | Pds5B−/− mice (%) . |
|---|---|---|
| Growth retardation | ∼100 | 100 |
| Mental retardation | + | ND |
| Microcephaly (small head) | 93 | 100 |
| Ptosis | + | 100b |
| Thin upper lip | + | + |
| Micrognathia | 84 | + |
| Cleft palate | + | 75 |
| Micromelia (small hands and feet) | 93 | 100 |
| Limb-reduction defects/oligodactyly | 27 | + |
| Genital hypoplasia (arrested development) | 57 | 100c |
| Gastrointestinal abnormalities | + | 70d |
| Hearing loss | 60 | ND |
| Heart defects | 14 | 60 |
| Sister chromatid cohesion defects | −e | − |
| . | CdLSa (%) . | Pds5B−/− mice (%) . |
|---|---|---|
| Growth retardation | ∼100 | 100 |
| Mental retardation | + | ND |
| Microcephaly (small head) | 93 | 100 |
| Ptosis | + | 100b |
| Thin upper lip | + | + |
| Micrognathia | 84 | + |
| Cleft palate | + | 75 |
| Micromelia (small hands and feet) | 93 | 100 |
| Limb-reduction defects/oligodactyly | 27 | + |
| Genital hypoplasia (arrested development) | 57 | 100c |
| Gastrointestinal abnormalities | + | 70d |
| Hearing loss | 60 | ND |
| Heart defects | 14 | 60 |
| Sister chromatid cohesion defects | −e | − |
The frequency of the feature is indicated by numbers; otherwise, `+'indicates the feature has been reported or observed multiple times and`−' indicates that the feature has not been reported or observed. aData from Jackson et al.(Jackson et al., 1993); bSuperior cervical ganglion defects that can result in ptosis; cGerm cell depletion; dEnteric nervous system defects; eData from Tonkin et al.(Tonkin et al., 2004); ND, not determined; CdLS, Cornelia de Lange syndrome.