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Table 1 Summary of the clinical features of the patients with 4p16.3 duplication overlapping with our patient

From: Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication

Clinical features Present case Hannes et al. [1] Cyr et al. [2]
Sex and age at diagnosis M, 13 years M, 23 months M, 9 months
Weight >97th centile < 3rd centile 30th centile
Height 90-97th centile N.R. 30th centile
Head circumference 25th-50th centile N.R. >95th centile
Neurocognitive Mild ID (IQ 68) Unknown Unknown
Neurologic Delayed motor development and speech Delayed motor development and speech, seizure, hypotonia Delayed motor development, seizure
Neuropsychiatric ADHD N.R. Too young
MRI Normal Delayed myelinisation Dilatation of the lateral ventricles
Macro/Microcephaly N.R. Unknown Macrocephaly
Forehead High High High
Frontal bossing + + +
Epicanthal folds + + +
Hypertelorism + - +
Abnormal palpebral fissures Narrow and long Narrow and long Downslanted
Nose Normal Normal Broad nasal root and short nasal bridge
Low set/abnormal ears Normal Low-set and dysmorphic Low-set and posteriorly rotated
Palate High arched High arched Normal
Micrognathia Present Absent Absent
Neck Short Short Short
Musculoskeletal Scoliosis, bilateral flatfoot Small hands and feet, malformations of the right hand N.R.
Others Hyperopia, dental abnormalities, gynecomastia Glaucoma (left eye), hypoacusis of the right ear Irregular iris pigmentation-heterochromia, hyperopia
  1. +, present; −, absent; ID, intellectual disability; ADHD, attention deficit hyperactivity disorder; N.R., not reported.