| Phenotype details |
mild; brachycephaly; no low anterior hairline; fontanelle open 1.5cm at 17 mo; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, no widely spaced teeth, gap between upper incisors, no micrognathia/no retrognathia; no short neck; small, posteriorly rotated ears; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, clinodactyly 5th finger, very short 5th finger, single transverse palmar crease; small feet, mild syndactyly toes; no restriction elbow movements; normal patellae; 2cm leg length discrepancy at 25 mo; caridac defect, narrow aortic valve, small VSD; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability, 17m-minimal word understanding; pleasant; speech 17m-vocalizing, 25m-no words, signs; crawl-12m, cruising-17m, walk-24m; birth 37w, birth weight 1845g (SD -2), length 42cm (SD -3); weight 6515kg (Z -5,5), height 70.5cm (Z -2,8), OFC 41.5cm (SD -3,7); no obesity |
