Objective: To investigate the clinical and genetic characteristics of
Prader-Willi syndrome (PWS).
Methods: The clinical data and genetic characteristics of 2
children with PWS diagnosed in Hebei Provincial People's
Hospital were retrospectively analyzed, and the relevant
literature was reviewed.
Results: Case 1,
male ,
aged 6 years and 3 months, was presented to the
hospital because of short stature, mild
mental retardation ,
dysarthria ,
scoliosis ,
cryptorchidism , micropenis, long
skull , narrow
face ,
almond eyes , small
mouth , thin upper
lip , downward corners of the
mouth , fair
skin . He had
hypotonia and
feeding difficulties in infancy, and gradually became hyperappetitive.
Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2,
male ,
aged 4 years, presented to the
hospital mainly due to
obesity , hyperappetite, excessive
weight gain , backward
language and
cognitive function ,
dysarthria , and
scoliosis .The
infant had
feeding difficulties in the early stage, and
bilateral cryptorchidism surgery at the age of 2 was not effective.
Methylation specific
polymerase chain reaction and
methylation specific multilink probe amplification were used to detect the loss of the
parent fragment in the key region (15q11-13) of PWS, which confirmed
Prader-Willi syndrome .
Conclusion: PWS is a rare
hereditary disease with complex and diverse clinical manifestations and different characteristics in different
age groups . It is highly susceptible to unexplained
hypotonia and
feeding difficulties in infancy.
Children with short stature and
obesity should be alert to the
disease , which can be clearly diagnosed by
molecular genetic techniques .