| Phenotype details |
pregnancy renal cysts and heart defect on fetal ultrasound; birth 36w induced vaginal delivery, apneic at delivery, responding to PPV, started on PGE for known COA, weight 1.990 kg (–1.49 SD), length 42 cm (–2.55 SD), OFC 28.5 cm (–3.2 SD); feeding problems during neonatal period with tube feedings, persistent FTT; 6y-height 93.47 cm (–5.11 SD), weight 11.79 kg (Z –5.71), OFC 41 cm (–8.7 SD); 3m-rolled over; 18m-crawl; 4y-walk; speech 20 words; no formal developmental assessment. attends elementary school receiving special education through the public school system. uses communication devices for expressive language. receptive language seems good; oval-shaped face with mild bitemporal constriction; fine hair; mild telecanthus, upslanting, short and narrow palpebral fissures hyperopia, mild bilateral optic nerve hypoplasia; prominent nose with low-hanging prominent columella; smooth philtrum; wide mouth with thin upper vermillion border; highly arched palate, widely spaced teeth of abnormal shape; unusual shape ears with underfolded helix and prominent anthelix; pointed chin with prognathia; normal thorax; bilateral talipes equinovarus; normal genitalia; no puberty; no epilepsy; CT brain suspected partial deficiency rostrum corpus callosum, non-specific foci left fronta/left occipital skull of unknown etiology; coarctation of aorta, mitral valve stenosis; multicystic dysplastic right kidney, history of multiple urinary tract infections, normal voiding cystourethrogram; normal bone age, normal growth hormone status; frequent otitis media status post tympanostomy, tube placement |
