Table 2 Phenotypic overlap between our patient and a patient reported by Avansino et al. [15] and Sarri et al. [22]. Note some of the craniofacial and other physical features also reported in connective tissue disorders, e.g. dolichocephaly, malar hypoplasia/midface hypoplasia, etc. Some of these features were reported in Novara et al. [18] which is not included in this table
Current Case | Avansino et al., 1999 | Sarri et al., 2006 | |
|---|---|---|---|
Duplication: | mar(5)(p13.3-q11.2) [40–45% mosaicism] | mar(5)(p10-p13.1) | r(5)(p13.2~ 13.3-q11.2) [60% mosaicism] |
Dysmorphic Facial Features: | |||
Macrocephaly | + | + | + |
Dolichocephaly | + | + | + |
Epicanthal folds | – | + | + |
Upslanting palpebral fissures | – | + | Down-slanting |
Hypotelorism/ Hypertelorism | Hypo | Hyper | Hyper |
Esotropia/strabismus | + | – | – |
Short nose | – | + | – |
Malar hypoplasia | + | – | – |
Midface hypoplasia | – | + | – |
Pre-auricular pit | Bilateral | Unilateral | Bilateral |
High arched palate | – | + | – |
Arachnodactyly/tapered fingers | + | + | + |
Other Features: | |||
Polyhydramnios | + | + | – |
Pectus excavatum | + | – | – |
Respiratory issues | + | + | – |
Congenital heart defect | – | + | + |
Aortic dilation | + | NR | – |
Scoliosis | + | – | – |
Talipes equinovarus | + | – | – |
Seizures | – | – | – |
Hypotonia | – | + | – |
Developmental delay | + | + | Borderline |