| Phenotype details |
induced delivery a few days past term Inhaled amniotic fluid, Agpar score low-normal, In incubator for 48 hours and 24 hours under light therapy for jaundice; birth 40w5d, length 51cm, weight 3800g; weight 31kg (P19), height 142cm (P25), OFC 53.5cm (P26); delayed motor mevelopment; delayed hand skills; delayed language development and echolalia for first 4 years, practically nonverbal since then; 4y-regression; language regression; 9y-motor regression, possibly caused by epilepsy and epileptic medications; severe intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; overly and inappropriately social, inappropriate spells of delirious laughter; very high sensory needs (seeks movement and noise/music); stereotypies ataxia; hypotonia; 9y-epilepsy, focal (frontal), good control with VPA+CLB; EEG spike-wave generalized, parietal spikes (right), slow Background; MRI hyppocampal assimetry (left smaller, effacement of the gray-white matter differentiation), mild periventricular WM HI, mild cerebral and cerebellar atrophy, ventricular dilatation, thin corpus callosum; folate deficiency; strabismus, nystagmus (10y); normal hearing; easy bruising, sensitive skin, erythromelalgia; normal shape face; long thick eyelashes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; food intolerances, gastroesophageal reflux; no endocrine dysfunction; normal breathing; bruxism; difficulty falling asleep, less sleep than normal, needs amount of sleep to be controlled otherwise will wake up during night or early morning; peripheral vasomotor disturbances (erythromelalgia); diminished pain response; no intense eye communication; no genital malformations; |
