Table 1 Clinical features present in our patient, in the FOXG1- syndrome and in the r(14)-syndrome

Karyotype/molecular characteristics

47, XX, del(14)(q12q24.3), + (r14)

FOXG1 point mutations, 14q12 CNV

Ring chromosome 14

Number of cases reported so far

Unique

~ 50

Less than 80 cases

Clinical features

Pregnancy and neonatal period

Normal

Normal

Normal

Postnatal growth deficiency

Moderate

Mild to moderate

Intellectual disability

Severe

Severe

Mild to severe

Developmental delay

Delayed psychomotor development since 2 months of age

Severe

Severe

Postnatal microcephaly

Yes

Postnatal microcephaly (-4/-6 SD)

Reported in the majority

Speech-language development

No speech

Absent or minimal speech

Severely affected

Social interaction

No eye-contact

Poor eye contact, denoting a syndromic form of autism

Autistic traits

Walking

Unable

Unable

N/A

Loss of psychomotor skills

Hand skills, speech, communication skills

N/A

Skeletal abnormalities

Osteoporosis and thoraco-lumbal scoliosis

Scoliosis, kyphosis

Scoliosis

Facial dysmorphism

N/A

Only in patients with deletions

Mild. Peculiar facial appearance only in patients with deletion size greater than 0.65 Mb, including blepharophimo-sis, short bulbous nose, long philtrum, epicantal folds, small mouth

Behaviour

N/A

Poor sleep pattern, irritability (especially in infancy), excessive crying/weeping, inappropriate laughing

Hyperactivity, aggressiveness

Epilepsy

Therapy-resistant epilepsy. Seizure type: GTCS, often in series. Onset: 1 year-of-age.

Infantile spasms in association with duplications, CPS, GTCS, myoclonic seizures

Early-onset (in most cases within the first year of life), typically drug-resistant GTCS, CPS

Ocular abnormalities

Loss of vision

Strabismus

Retinal pigmentary anomalies, retinitis pigmentosa, cataract, strabismus, maculopathy, glaucoma, myopia

Motor and dyskinesias

Tetraplegia

Hypotonia, spasticity, abnormal locomotion, stereotypic movements (especially hand movements), dyskinesias (chorea/athetosis/dystonia), bruxism, drooling (sialorrhea), tongue protruding movements

Hypotonia, motoric stereotypies, hand flapping, echolalia

Gastrointestinal and respiratory systems

N/A

Feeding difficulties, aspiration, gastro-esophageal reflux, constipation, breathing abnormalities

Susceptibility to infections of the respiratory tract

Brain Imaging

MRI (1994): central and cortical atrophy, corpus callosum agenesis. Suspicion of changes in cortical-spinal tracts

Simplified gyral pattern, white matter hypoplasia (frontal), hypogenesis of corpus callosum, variable mild frontal pachygyria

White matter hypoplasia, corpus callosum abnormalities, hippocampal dysmorphisms, cerebellar structural abnormalities