| Phenotype details |
37w-induced vaginal delivery secondary to fetal decelerations, weight 1980g (-2.28); intrauterine growth retardation, pregancy sustained with ASA and heparin due a to pregnancy associated disorder similar to Factor V deficiency; height 105.2 cm (-0.89), weight 13.01 kg (-2.41), OFC 48 cm (-2.2), BMI 11.8 (-2.88); mild intellectual disability; 6m-social smile; 9m-roll-over; 12m-sit; 15m-stand; 18m-walk; 4y6m-not toilet trained; able to dress and feed self; 30m-first words, now normal speech; special pre-school, poor retention and difficulty following 2 step directions; no autistic features; mostly happy demeanor, social, tendency to overreaction, temper tantrums, short attention span, easily distracted, fidgety, restless, talks excessively, interupts others, hyperactive; intermittent insomnia, occasional gasping for breath while sleeping; no seizures; 28m-MRI brain 8mm pineal cyst, 50m-MRI brain non-specific mild diffuse T2/FLAIR signal hyperintensity in the bilateral parietal and occipital white matter, 50m-MRI spinal small thoracic spinal cord syrinx (ddx prominence of the central canal); previously diagnosed with hemiplegic infantile cerebral palsy, 4y-tone was symmetric; failed newborn OAE and follow up testing, 9m-ABR normal; no ophthalmological abnormalities; <4m-history of silent aspiration; non hemodynamically significant small PFO, ECG with left axis deviation amd normal sinus ryhthm; 1d-feeding difficulties, 4m-refusing oral feeds; swallowing study revealed silent aspiration and NG tube was placed, followed by G-tube 13m; stomach dumping syndrome; no genitourinary abnormalities; 15m-signs of precocious puberty, non-progressive, with normal endocrine evaluation; no metabolic abnormalities; severe allergic reation to latex; no skeletal/limb abnormalities; triangular face, high forehead, high anterior hairline, prominent nasal root, widely spaced eyes |
