Disease: Thoracic dysplasia hydrocephalus syndrome
- A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
- A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound
- Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome
- Cloverleaf skull and bilateral facial clefts
- Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)
- Thoracic dysplasia-hydrocephalus syndrome
- VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?