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Table 1 Comparison of the clinical features of Mowat-Wilson syndrome and our patient with 2q22.3 triplication involving ZEB2 gene

From: A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

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.) -
  1. + feature present; − feature absent