Description

At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles and on her right hamstring. She has also has surgery on her right Achilles to lengthen it and has had a number of rounds of casting on her right ankle.

A skeletal survey was performed on the older sister at 1 year, which showed fusion of the spine. An echocardiogram (ECHO) around this time showed an abnormal mitral valve. X-rays at 8 years showed a 47 degree curvature of the spine. As a result, the patient had to wear a brace for 24 hours a day and recently underwent surgery. Both siblings have sideways curve of the spine (scoliosis) and inward curve of the spine (lordosis), which is causing them difficulty in breathing.

Both sisters also have webbing of the neck and armpits (axillae), bent fingers (camptodactyly), and a small head size (microcephaly). They both have severe restrictive lung disease and the older sister has had severe coughing episodes that last 3 weeks at a time since the age of 9. They both also have small jaws (micrognathia), which is being treated with orthodontic work. The younger sister has milder symptoms in comparison to her older sister. Both girls are developing as expected.