Case Reports in Pediatrics / 2020 / Article / Tab 1 / Case Report
A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation Table 1 Findings in comparison with previously reported
WAC cases in the literature. The dysmorphic features reported in Zhang et al., 2019 [
8 ] is presented in this table according to the clinical illustration found in
https://www.sohu.com/a/354042751_387855 . CC, cranial circumference; N.R., not reported; +, present; −, absent.
DeSanto et al., 2015 Lugtenberg et al., 2016 Uehara et al., 2018 Vanegas et al., 2018 Zhang et al., 2019 Leonardi et al., 2020 This Report Sex 5 F, 1 M 6 F, 4 M 3 M M F 1 F, 2 M M Age 1.3–11 y/o 1.5–22 y/o 3–22 y/o 4 y/o 5.8 y/o 7–17 y/o 3.2 y/o Normal Perinatal Period 2/6 6/10 3/3 + + 2/3 + Delayed Physical Growth 2/6 3/10 2/3 + − 2/3 + CC Size Anomaly N.R. 2/10 1/3 + − 2/3 + Development Intellectual Disability 3/6 8/10 3/3 + + 2/3 + Language Delay 6/6 9/10 3/3 + + 3/3 + Motor Delay 6/6 9/10 3/3 + + 3/3 + Behavioral Problems Autistic Features 1/6 4/9 0/3 − N.R. 2/3 − Hyperactivity 3/6 4/10 0/3 + N.R. 1/3 − Anxiety 3/6 3/10 1/3 + N.R. 1/3 − Sleep Disturbance 2/6 6/10 0/3 - + 2/3 + Stereotypies 1/6 N.R. 0/3 - N.R. 2/3 − Neurological Hypotonia 6/6 7/9 0/3 + + 2/3 + Seizures 2/6 1/9 0/3 − + (focal) 1/3 + Epilepsy 1/6 1/9 0/3 − + 1/3 (focal) + Ocular Vision 2/6 5/10 1/3 − N.R. 1/3 − Strabismus 3/6 3/10 1/3 − N.R. 1/3 − Dysmorphisms Facial Shape Dysmorphology N.R. 5/10 2/3 − + 1/3 + Prominent Forehead 6/6 10/10 1/3 + + 1/3 + Bulbous Nasal Tip 5/6 N.R. 3/3 + + 2/3 + Long or Downslanting Palpebral Fissures 1/6 5/10 3/3 − − 1/3 + Synophrys 3/6 2/10 1/3 + + 1/3 - Deep Set Eyes 2/6 5/10 0/3 + + 2/3 + Full Lips–Think Upper Lip 3/6 N.R. 1/3 - − 0/3 + Low-set Ears 3/6 N.R. 1/3 + − 0/3 − Hirsutism/Hypertricosis 2/6 1/10 1/3 + − 1/3 + Digital Anomalies 1/6 7/7 (3 N.R.) 3/3 + N.R 1/3 + Posteriorly Rotated Ears 3/6 10/10 N.R. + − N.R. + Preauricular Pit 1/6 N.R. 1/3 − − N.R. − Low Nasal Bridge 6/6 N.R. N.R. + + N.R. + Malar Hypoplasia 1/6 N.R. N.R. + + N.R. + Hypertelorism 2/6 10/10 N.R. + + N.R. − Macroglossia N.R. 10/10 N.R. + N.R. N.R. + Other Feeding Difficulties 4/6 4/10 0/3 + N.R. 1/3 − Constipation 5/6 N.R. 1/3 − N.R. 1/3 + Frequent Infections N.R. 6/8 (2 N.R.) 0/3 + N.R. 0/3 + Respiratory Infections N.R. 6/8 (2 N.R.) N.R. + N.R. 0/3 + Skin Infections N.R. N.R. N.R. N.R. N.R. 0/3 + Hypogammaglobulinemia N.R. N.R. N.R. + N.R. N.R. − Hearing Abnormalities 2/6 0/2 (8 N.R.) 0/3 + N.R. 0/3 − EEG Abnormalities 0/2 0/1 (9 N.R.) N.R. N.R. + 1/3 − MRI Abnormalities 1/6 4/9 N.R. − − 0/3 +
