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Differential diagnosis [ edit ] In contrast, pseudobulbar palsy is a clinical syndrome similar to bulbar palsy but in which the damage is located in upper motor neurons of the corticobulbar tracts in the mid-pons (i.e., in the cranial nerves IX-XII), that is the nerve cells coming down from the cerebral cortex innervating the motor nuclei in ...
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, [9] is a congenital heart defect characterized by four specific cardiac defects. [4] Classically, the four defects are: [ 4 ] pulmonary stenosis , which is narrowing of the exit from the right ventricle;
Van der Woude syndrome is inherited as an autosomal dominant disease caused by a mutation in a single gene with equal distribution between the sexes. The disease has high penetrance at about 96% but the phenotypic expression varies from lower lip pits with cleft lip and cleft palate to no visible abnormalities.
Mobius syndrome is characterized by facial weakness and horizontal gaze palsy. Horizontal gaze palsies have also been described in certain genetic conditions involving heterozygous mutations of the ROBO3 gene, resulting in the rare condition known as "Horizontal gaze palsy and progressive scoliosis." [10]
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
Abduction limitations that mimic VIth nerve palsy may result secondary to surgery, to trauma or as a result of other conditions such as myasthenia gravis or thyroid eye disease. In children, differential diagnosis is more difficult because of the problems inherent in getting infants to cooperate with a full eye movement investigation.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
The Trilogy of Fallot also called Fallot's trilogy is a rare congenital heart disease consisting of the following defects: pulmonary valve stenosis, right ventricular hypertrophy and atrial septal defect. [1] It occurs in 1.2% of all congenital heart defects. [2]