Article
Prader-Willi-like phenotype in fragile X syndrome.
Clinical genetics - 1 Apr 1994
Schrander-Stumpel C, Gerver W J, Meyer H, Engelen J, Mulder H, Fryns J P
Abstract excerpt
A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical-cytogenetic-molecular grounds, Prader-Willi syndrome was excluded. Fragile X syndrome was diagnosed by the presence...
Topics
- Body Weight
- Child, Preschool
- DNA
- Diagnosis, Differential
- Fragile X Syndrome
- Growth
- Humans
- Male
- Phenotype
- Prader-Willi Syndrome