X-linked dominant disease.
Synospsis
systemic anomalies
craniofacial anomalies
- scalp lipoma
- microcephaly
- facial asymmetry
- cleft lip
- cleft palate
ocular anomalies
- microphthalmia
- optic nerve coloboma
- bilateral chorioretinopathy
- chorioretinal lacunae
- retinal detachment
- cataract
- nystagmus
- optic atrophy
recurrent pneumonia
hiatal hernia
skeletal anomalies
- absent ribs
- extra ribs
- fused ribs
- bifid ribs
- butterfly vertebrae
- block vertebrae
- hemivertebrae
- spina bifida
- scoliosis
limb anomalies
- proximally placed thumbs
cerebrospinal anomalies
- corpus callosum agenesis
- Dandy-Walker malformation
- Arnold-Chiari malformation
- cavum septum pellucidum
- choroid plexus cyst
- delayed myelination
- partial-total agenesis of corpus callosum
- enlarged lateral and third ventricles
- cortical heterotopias
- subependymal heterotopias
- pachygyria
- hypoplastic cerebellar vermis
- infantile spasms
- profound mental retardation
- hypotonia
tumoral predisposition
- hepatoblastoma
- benign teratoma
- embryonal carcinoma
- metastatic angiosarcoma