| Phenotype details |
41w-birth spontaneous vaginal, length 45cm (-3.52), weight 2480g (-2.79); intrauterine growth retardation; at age 1y failure to thrive; height 164.5cm (-1.56), weight 45.4Kg (-2.78), OFC 55cm (-1.34), BMI 16.8 (-2.3); delayed bone age (9,25y at 10y6m); learning difficulties (IQ: 78-81); 19m-walk; >4y-toilet trained; autonomous in all daily activities; delayed speech, later no speech impairment; trains as a horticolturis, before received support at school; no autistic features; 11y-psychological support because of suicidal thoughts related to poor scholastic performance, otherwise happy, social; no sleep disturbances; no seizures; normal muscle tone, 26m-hypotonia; no hearing loss; minor refraction defect, does not wear glasses; no pulmonary abnormalities; no cardiovascular abnormalities; neonatal feeding difficulties; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no immunological abnormalities; pectus excavatum, scapulae alatae, mild scoliosis, flat feet, prominent knees, broad forefeet, bilateral clinodactyly 5th toe; triangular face, broad forehead, protruding ears, high arched palate; dental crowding, succesfully treated with braces, high arched palate |