| Phenotype details |
moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no hooding of lids; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, cleft palate, submucous, 4 teeth only at age 21 months, micrognathia/retrognathia not obvious as infant; short neck; prominent nasal "pillars"/"buttresses"; , hirsutism, nevus flameus; , clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet; Bone age 2 yrs 6 mths at 2 yrs 10 mths. Distal bones more advanced than proximal. One coned epiphyses of middle phalynx of index finger. Short middle phalynx of 5th fingers; caridac defect, Premium & secundum ASD & VSD mitral valve cleft & PDA ligation; no genitourinary defects, Renal U/S normal, normal U/S of hips; gastroesophageal reflux; feeding problems infancy, nasopharyngeal regurgitation thought to have submucous cleft; Otitis media- grommets; MRI brain normal; seizures, onset 32 months on VPA; moderate intellectual disability; quiet; very poor speech, communicates using sign language, understands much more; walk-2y6,, can crawl up stairs, 34m-needs help with dressing); birth 39+6w, birth weight 2300g (SD -2), length 47cm (SD -1,6), OFC 30.5cm (SD -3); weight 5.9kg (Z -6), height 64,2cm (Z -4,2), OFC 41.3cm (SD -1,6); no obesity |
