Table 1 Comparison of the clinical features of Mowat-Wilson syndrome and our patient with 2q22.3 triplication involving ZEB2 gene
Features of MWS | Features of our patient |
|---|---|
craniofacial features | |
▷ craniosynostosis | craniosynostosis-scaphocephaly |
▷ frontal bossing | - |
▷ microcephaly | microcephaly at birth, normal at 2 years 2 months |
▷ deep-set large and widely spaced eyes | - (small eyes) |
▷ large uplifted earlobes with a dimple in the middle | auricle dysplasia, low-set and asymmetrical |
▷ a saddle nose with a rounded nasal tip | - (flat nose bridge) |
▷ open mouth appearance | + |
▷ M-shaped upper lip | - |
▷ prominent but narrow chin | - (micrognathia) |
▷ large, flaring eyebrows | - (sparse eyebrows and hair) |
▷ elongated face | - (flat facial profile) |
moderate to severe intellectual disability | mild cognitive impairment |
developmental delay | |
▷ growth development | + |
▷ delayed motor development | + |
▷ severe speech impairment with relative preservation of receptive language | + |
short stature | IUGR with postnatal catch-up |
hypotonia | + |
heart defects | + (small atrial septal defect) |
corpus callosum agenesis | - |
epilepsy | - |
hirschsprung disease | - (mild to moderate constipation) |
friendly and happy personalities | + |
abnormalities of the urinary tract and genitalia | + (small testes) |
hypospadias | - |
eye defects | - |
hand anomalies | + (short hands and broad fingers) |
others (skin pigmentary changes, etc.) | - |