
Sougoulé
She presented at age 1 month with recurrent episodes of diarrheaa and dyspnea. Parents noted axial hypotonia followed by a psychomotor delay (sat at …
She presented at age 1 month with recurrent episodes of diarrheaa and dyspnea. Parents noted axial hypotonia followed by a psychomotor delay (sat at …
He is a 20-year-old young man born of a consanguineous marriage, who was seen in clinic for walking difficulties and limb/joint deformities. The …
This 25-year-old man was seen for multiple joint contractures. He presented at age 3 wtih a swelling on his forehead that disappeared soon after. …
She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She …
He presented at age 2 years with problems with walking. These included a waddling gait and a right sided limp, such that he could no longer run with …
He presented at around age 14 years with frequent falls when walking and difficulty with running, which led him to stop playing sports.
She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a …
He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting …
At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.
Symptoms started around 1 year of age when parents noticed that the patient was walking on his toes. Gait was abnormal, and has was able to run only …
Symptoms started at 2 days of age, and were characterized by tonic-clonic seizures and respiratory distress requiring hospitalization.
Symptoms started at 3 days of age, with respiratory distress requiring hospitalization for 9 days, followed a month later by seizures with eye …