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Branchio-oculo-facial syndrome (BOFS) [1] is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. [ 1 ]
Horner's syndrome, also known as oculosympathetic paresis, [1] is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged. The signs and symptoms occur on the same side (ipsilateral) as it is a lesion of the sympathetic trunk.
Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...
For infants, bradycardia is defined as a heart rate less than 100 BPM (normal is around 120–160 BPM). Premature babies are more likely than full-term babies to have apnea and bradycardia spells; their cause is not clearly understood. The spells may be related to centers inside the brain that regulate breathing which may not be fully developed.
It is also known as brachial plexitis, and results in brachial plexus inflammation without any apparent shoulder injury. PTS can manifest with severe pain in the shoulder or arm, followed by numbness and weakness. [5] Parsonage–Turner syndrome occurs in about 1.6 out of 100,000 people every year. [6]
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
The syndrome is characterized by a headache, seizures, altered mental status and visual loss. "He came home a week later with four more medications, taking a total of 18 pills a day," Arivia says.
Lower brachial plexus injuries should be distinguished from upper brachial plexus injuries, which can also result from birth trauma but give a different syndrome of weakness known as Erb's palsy. Other trauma, such as motorcycle accidents, that have similar spinal cord injuries to C8 and T1, also show the same symptoms of Klumpke's paralysis.