He had no history of seizures, hypoglycaemia, or hypotonia but did have an adenoidectomy and history of recurrent otitis media. There was a history of gestational diabetes, and a birth weight of 4.1 kg (90th centile). [jmg.bmj.com]

Chronic otitis media, seen in 60% to 80% of cases, has its onset early in life, and recurrent otitis media is present in 23% of males with fragile X syndrome. [pediatrics.aappublications.org]

The cardiovascular and abdominal examinations were normal without heart murmur, organomegaly, or hernias. The genital examination showed freckles on the glans penis, but both testes were of normal size. [jmg.bmj.com]

The craniofacial examination revealed a high arched palate. The ears were 5 cm long ( 4 SD) but normally shaped and placed. The cardiovascular and abdominal examinations were normal without heart murmur, organomegaly, or hernias. [jmg.bmj.com]

Website: www.fragilex.org.uk TABLE 1: Common physical, behavioural and developmental features of fragile-X syndrome Physical features Behavioural Features Developmental Features Broad forehead Elongated face Large, prominent ears Strabismus High arched [intellectualdisability.info]

Structural changes of the face may start to become evident in preschool years and include a long face, high forehead, high arched palate, and prominent ears. [pediatrics.aappublications.org]

bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. [informatics.jax.org]

Sensory integration problems were noted as well as a short attention span. He was thought to have a pervasive developmental disorder. By exam he has one posterior hair whorl with coarse hair, joint laxity, and soft, loose skin. [jmg.bmj.com]

attention span Poor eye contact Brain tumor (astrocytoma) Benign adrenal gland tumor (adrenal adenoma) Abnormality of the brain (demyelinating brain lesions) Central nervous system infection Seizures (status epilepticus) Tall stature Increased bone age [undiagnosed.hms.harvard.edu]

attention span Impulsivity Enuresis, encopresis Autistic-like features: Gaze aversion (especially to strangers) Social anxiety & shyness Hand-flapping and hand biting Sensory defensiveness (aversion to loud noise, touch, strong smells or eye contact) [intellectualdisability.info]

The use of stimulant medication to treat hyperactivity, short attention span, and impulsivity decreases symptoms in approximately 60% to 70% of affected children but may be more effective for a child who is of school age than of preschool age. [pediatrics.aappublications.org]

Because of these reports and macrocephaly seen in patients with autism, we hypothesised an association between progressive macrocephaly and autistic behaviour and PTEN gene mutations. [jmg.bmj.com]