| Phenotype details |
mild; brachycephaly, orthotic helmet; no low anterior hairline, widow's peak; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids, astigmatism; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, delayed eruption, micrognathia/retrognathia; no short neck; grimacing smile; no cutis marmorata, no hirsutism, nevus flameus, Hair and nails grow slowly; small hands, proximally set thumbs, no single transverse palmar crease; syndactyly toes 2,3; no restriction elbow movements; mild pectus carniatum, sacral dimple ; no caridac defects; genitourinary defect, Vesicoureteral reflux s/p surgical correction. Hypertension, renal cysts; gastroesophageal reflux; hiatal hernia; hearing loss, mild left SNHL; no anomalies CNS; 6m-possible seizure; intellectual disability; trouble staying asleep; speech 3.5y-no words, 10 gestures, 4y3m-25 words; rolled-10m, sat-12m, crawl-14m, walk-24m; prenatal: 2 vessel cord, late IUGR; birth 38w, birth weight 2330g (SD -1,3), length 47cm (SD -0,6), OFC 31.5cm (SD -1,3); weight 13.8kg (Z -1,4), height 95cm (Z -1,7), OFC 47cm (SD -1,7); no obesity |
