Phenotype details |
see paper; ..., during pregnancy placenta praevia and bleeding; 27w-ruptured placenta leading to emergency caesarean section delivery; birth 27w; intellectual disability; developmental delay; motor delay; speech delay; no epilepsy; EEG occasional theta slowing in L and R temporal, and posterior quadrants, at times with occasional diffuse theta slowing with an occipital predominance suggesting presence of diffuse and focal cortical dysfunction with encephalopathy, EEG normal apparent interictal discharges, events of concern were captured and were found to be nonepileptic in nature; hypotonia, low to normal muscle tone; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; 0.8y MRI brain mild bifrontal white matter volume loss with mild prominence of frontal horns and bodies of both lateral ventricles, mild symmetric prominence of subarachnoid fluid over frontal convexities and along anterior interhemispheric fissure; no regression; no other neurological abnormalities; tall prominent forehead, medial eyebrow flare, bulbous nasal tip, deep, short philtrum, prominent chin, small widely spaced teeth; small widely spaced teeth; no drooling, dysphagia; no hearing abnormalities; retinopathy of premature, resolved, currently pseudoesotropia and hyperopia; resolved patent ductus arteriosus; no skeletal abnormalities, no limb abnormalities; G-tube present. h/o of reflux and constipation; no urogenital abnormalities; no endocrine/metabolic abnormalities; preauricular tags, lrft forehead vascular lesion; no neoplasms |