| Phenotype details |
moderate; brachycephaly; low anterior hairline; open fontanelle, plagiocephaly; arched eyebrows, mild synophrys, long eyelashes, no hypertelorism, no telecanthus, mild ptosis, no lacrimal duct obstruction, no hooding of lids, squint; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, irregular dentition, micrognathia/retrognathia; no short neck; prematurely aged; no cutis marmorata, hirsutism; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; short distal phalanges, fetal finger pads, bilateral short 4th metatarsals, leg length discrepancy; caridac defect, primum ASD; no genitourinary defects; severe gastroesophageal reflux; feeding problems in infancy ; gastrostomy; MRI brain normal; no seizures ; intellectual disability, severe global delay; happy sociable as a baby, now aggressive with tantrums; nonverbal uses a few signs; delayed motor development, sat-15m, walk-8y with support; 5 wks in SCBU on oxygen; birth 37-5/7w, birth weight 1450g (SD -3,6), length 40.5cm (SD -3,2); |
