| Phenotype details |
see paper; ..., birth 41w+3 emergency Ceasarean section; left ear-severeSNHL. right ear - serous otitis media with effusion; conductive hearing loss; vision normal. 2006 - papillary pigmentary changes in the right eye and slight discolouration of the optic disc in both eyes, thought to be within normal limits for his age; developmental motor delay; 2y1m-walk; fine motor difficulties; developmental delay language; 3y6m--first words; 5y4m-speak in sentences, nasal speech, pronuncation difficulties; autism; no ADHD; no sleep abnormalities; 12y-IQ4, 17y-no intellectual disability reported (earlier score may be underperformance related to Autism diagnosis); special education; 3y normal echo; 6y-aortic root dilatation (aortic root 19mm, sino-tubular junction 25mm); 9y-aortic root (sinus 28mm). Atenolol from 9y. Now stable under yearly follow up; Normal; Feeding difficulties (pureed food until 2y; food texture aversion); Seen by endocrine team (17 yo), considering testosterone for delayed puberty. Growth monitoring ongoing. Delayed bone age; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma; hypotonia; no seizures; dysmorphic features; low set and posteriorly rotated ears, dysplastic, thickened helices, large earlobe; down slanting, long palpebral issures. ectropion for temporal aspect of lower lid; bulbus nasal tip; high and prominent forehead, prominant metopic ridge; long face, prominent pointed chin; wide mouth with downturned corners, thin upper lip, smooth philtrum, high palate; high anterior hairline, slow growing scalp hair, fine hair, (2y10m-never),. bilateral temple balding. eyelashes/brows-fine, fair. hair-finally thickened 2012; large anterior fontanelle (22m-open and large), narrow skull, plagiocepahly; hypospadia/bilateral undescended testes/underdeveloped scrotum (hypoplasia) (bilateral orchidopexy); umbilical and inguinal hernia (bilat inguinal hernia repair and repeat left inguinal hernia repair); hyperextensibility of the finger joints, single palmar crease, bendy joints, short toes, small nails, hallux valgus, clinodactyly of 5th toes, scoliosis; required intubation and ventilation at birth but no airway problems generally; delayed tooth eruption and possible extra teeth, teeth serrated and small; born with 1 congenital melanocytic naevus left 5th finger, over time developed red-brown and brown, discrete macules and papules scantily distributed on his face, trunk and limbs, skin soft, pale, translucent, nails short, scars normal, no axillary freckles, sebhorreic eczema of scalp for several years; dacryostenosis (repair) |
