| Phenotype details |
mild; brachycephaly; no low anterior hairline; arched eyebrows, synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, no gap between upper incisors, small teeth, micrognathia/retrognathia; no short neck; no cutis marmorata, hirsutism, no nevus flameus, pigmentary mosaicism; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; bone age 5y @ chron 7y, pes planus, calcaneum valgum, mild scoliosis; caridac defect, Long QT; genitourinary defect, stones; no gastroesophageal reflux; feeding problems in infancy ; hearing loss, Conductive hearing loss, with cochlear implant; no anomalies CNS; no seizures ; mild intellectual disability, speech predominate; first words, 30 mo, phrases @3y, nasal speech, receives therapy; sat-10-11m, walk-14m; FTT, frontal hair whorl, slightly inferior bone age, bulbous nasal tip; birth 37w, birth weight 1790g (SD -2), length 43cm (SD -2); weight 34.7kg (Z -3,1), height 151.9cm (Z -2,1), OFC 51.9cm (SD -1,5); no obesity |
