At birth, the participant was noticed to have a small head (microcephaly), overlapping fingers, cleft palate, increased muscle tone (hypertonia), rocker bottom feet, abnormal creases on her hands, long and slender fingers, partially dislocated hips (bilateral hip subluxations), and joint contractures. At the age of 3, she had a muscle … read more
The participant was born preterm at 31 weeks with low birth weight. The pregnancy was complicated by twins, liver disease (cholestasis), and kidney stones. The participant’s twin had multiple birth differences and passed away at 5 months old in the NICU. The participant stayed in the NICU for 41 days … read more
When the patient was 20 months old, her mother noticed that she was large for her age. Since then, her height and weight have continued to increase despite regular physical activity and a healthy diet (overgrowth). At age 8, she started to have signs of increased androgen secretion (premature adrenarche) … read more
