Subject(s)
Abnormalities, Multiple/pathology , Eyebrows/abnormalities , Abnormalities, Multiple/genetics , Child , Female , Genes, Recessive , Humans , Male , SyndromeABSTRACT
Oculomotor apraxia may be idiopathic or a symptom of a variety of diseases. In Gaucher disease, oculomotor deficit is characterized by a failure of volitional horizontal gaze with preservation of vertical movements. We present 2 sisters, 6 1/2 and 5 1/2 years of age, in whom the presenting sign was oculomotor apraxia. Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease.
Subject(s)
Apraxias/etiology , Eye Movements , Gaucher Disease/physiopathology , Child , Child, Preschool , Female , Gaucher Disease/complications , HumansABSTRACT
A rare syndrome comprising midfacial hypoplasia, lack of anterior nasal spine, and malocclusion is described. To the best of our knowledge, only sporadic cases with a similar cluster of defects have been reported, usually with the appellation of Binder syndrome. We describe an affected mother and daughter, thus suggesting a dominant mode of inheritance.
