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Table 2 Summary of clinical features of the proband and the six patients reviewed in Table 1

From: A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

Clinical features of the present case No. of reported cases in the literature
Newborn respiratory distress 5
Wide fontanelle 4
Prominent occiput 1
Asymmetric skull 1
High forehead 3
Triangular face 1
Hypertelorism 5
Down slanting eyes 4
Flat/wide nasal bridge 5
Low set ears 5
Small/short nose 4
Micro-retrognathia 6
High arched palate 2
Short neck 5
Skeletal anomalies 2
CNS malformations 4
Psychomotor retardation 2a
  1. aOnly 2 babies survived beyond 2 days