Prenatal diagnosis of Pfeiffer syndrome

The article was written by Specialist Doctor Nguyen Dinh Hung - Radiologist, Department of Diagnostic Imaging - Vinmec Hai Phong International General Hospital.

Pfeiffer syndrome is a rare genetic disease characterized by degrees of craniosynostosis, arm and leg abnormalities, and a number of other abnormalities.

Ankylosing spondylitis causes a wing-shaped head with two bulging eyes Thumb abnormalities Spine abnormalities Short body Abdominal-thoracic asymmetry Abdominal-radial adhesions.

Pfeiffer syndrome of 3 types:
2.1 Type I Pfeiffer syndrome type I is associated with mild clinical craniostenosis, often self-limiting to the elongated shape of the skull and to define a markedly high forehead and flat face .
With proper treatment, people with type I Pfeiffer syndrome usually lead a normal life and have an IQ within the norm.
2.2 Type II Pfeiffer syndrome type II is the only pathological variant that defines the so-called "trefoil skull"; This craniocerebral anomaly has a severe impact on intellectual ability. Characteristic manifestations of Pfeiffer syndrome type II include:
Cranial fusion, facial deformity of the head in the shape of a winged wing. Eyes protruding out of the orbits Developmental retardation Elbow fusion Respiratory symptoms (difficulty in breathing) ) Hydrocephalus . 2.3 Type III Pfeiffer syndrome type III: The child has abnormalities in both type I and type II. Clinical manifestations are often very severe. Without early surgery to treat the symptoms, the child may die prematurely.

After fetal ultrasound with suspicious signs, amniocentesis must be performed.
With the desire to help mothers have the best preparation during pregnancy until "the mother is round and the child is square", freeing up confusion with antenatal check-ups as well as necessary tests during pregnancy pregnancy, Vinmec offers a Maternity Care Program with outstanding quality.
Vinmec gathers a team of highly qualified doctors at home and abroad, a system of ultrasound machines and modern medical equipment, an accurate and scientific antenatal check-up process that will handle abnormalities during pregnancy. pregnancy and during labor quickly so that you can have the safest pregnancy.

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