[Roberts syndrome with aneurysm of the interatrial septum, cow milk protein intolerance and absent swallowing reflex].
A three years old girl with Roberts-syndrome is presented in this report. An aneurysm of the interatrial septum without hemodynamic significance was found besides the typical symptoms of the Roberts-syndrome. The child had to be fed by nasogastral tube for more than two years because of never feeling hungry and lacking reflex to swallow. A pulmonary and intestinal reaction during the provocation with cowmilkprotein-containing food was observed additionally, so that we had to give an cowmilkprotein-free diet until the age of 28 months. The majority of reported cases with Roberts-syndrome showed characteristic cytogenetic abnormalities. The karyotype of our patient was normal. Roberts syndrome is an autosomal recessive disorder. We recommended repeated ultrasound examinations during the next pregnancy because of the 25% recurrence risk on subsequent siblings. The prognosis quoad vitam in patients with Roberts-syndrome remains poor. However, the development in our patient stresses the eminent value of medical and social support for those seriously handicapped children.
Scholbach
T
T
Kinderklinik des Städtischen Klinikums, St. Georg, Leipzig.
Reichenbach
H
H
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000150:complications*; D005260:Female; D006322:Heart Aneurysm / Q000150:complications*; D006325:Heart Atria; D006346:Heart Septum; D006801:Humans; D017880:Limb Deformities, Congenital; D016269:Milk Hypersensitivity / Q000150:complications* / Q000378:metabolism / Q000503:physiopathology; D008894:Milk Proteins / Q000009:adverse effects*; D012021:Reflex, Abnormal; D013577:Syndrome
D008894:Milk Proteins
Roberts-Syndrom mit Aneurysma des interatrialen Septums, Kuhmilchproteinintoleranz und fehlendem Schluckreflex.