| Phenotype details |
mild; no brachycephaly; no low anterior hairline, mild widow's peak; early plagiocephaly (requiring helmet); bitemporal narrowing; bony prominence on right mandible not seen on xray; arched eyebrows, mild synophrys, no long eyelashes, no hypertelorism, telecanthus, ptosis, myopia, no lacrimal duct obstruction, hooding of lids as younger child, short palpebral fissures; depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, normal teeth, micrognathia/retrognathia; no short neck; small mouth; cutis marmorata, hirsutism, nevus flameus, coarse/wooly textured hair; small hands, no proximally set thumbs, short and wide, no clinodactyly 5th finger, no short 5th finger, no single transverse palmar crease, bridged crease on left; small feet, no syndactyly toes; no restriction elbow movements, increased elbow extension; deeper set toenails; caridac defect, small ASD; no genitourinary defects, normal abdominal ultrasound; gastroesophageal reflux; feeding problems infancy, G-tube until 3y; no hearing loss; ultrasound brain normal; no seizures, "tremors" at 3 years thought to be autonomic response; intellectual disability; generally happy and easy going, sometimes screams for attention; speech 3y4m-40 words, 5y-1 to 4 word utterances to label, comment, request ; rolling-8m, sit without support-10m, walk-31m, run,jump and stairs 3y3m, delayed fine motor skills but are a relative strength; maternal pulmonary embolism at 26 weeks. Late in pregnancy fetus "small" by ultrasound; birth 39w, birth weight 2578g (SD -1,6), length 45.7cm (SD -2); weight 16.1kg (Z -0,5), height 98cm (Z -1,6), OFC 47cm (SD -2,4); no obesity |
