A mother gives birth to a 4.3-pound baby boy. The birth was an uncomplicated spontaneous vaginal delivery. On initial physical exam after birth, it is noticed that the baby has a large head, extremely short stature, as well as shortening of both arms. The baby is also noticed to have facial hypoplasia and a saddle nose. Prenatal genetic testing was not performed on the couple. The father is of normal height, while the mother is slightly under average height at 4.11 ft.
The mother reports no drug or alcohol abuse during pregnancy. She took appropriate prenatal vitamins throughout pregnancy. The remaining physical exam is unremarkable. Identify the genetic condition in a baby boy. Source: GWUMC- Genetics *This case is from Docplexus Editorial Team for educative purpose only.
