Autoszomális recesszív
Caused by changes in both copies of the HSPG2 gene, which makes perlecan, a component of cartilage and basement membranes. Changes that leave little or no working perlecan cause this severe form.
Tünetek és jelek
Vertebral bodies of different sizes and shapes, very short and bowed limbs. These can be seen on prenatal ultrasound, although few cases were detected before birth in published reports. Most affected babies die before or shortly after birth.
Mit változtat a diagnózis
Care centres on prenatal diagnosis, planning around delivery and palliative care. Parents of an affected baby are usually both carriers, with a recurrence risk in each pregnancy, so genetic counselling, carrier testing and options for prenatal testing can be discussed.
Vizsgált gének
Más néven
Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; DDSH; dyssegmental dwarfism Silverman-Handmaker type
