Article
Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.
BMJ case reports - 12 Jul 2021
Verma Arjun, Banait Nishant, Suryawanshi Pradeep, Garegrat Reema
Abstract excerpt
Neonatal Schwartz-Jampel syndrome type II is a rare and severe form of genetic disorder. Different from the classical appearance in infancy, neonatal presentation involves respiratory and feeding difficulties, along with characteristic pursed appearance of the mouth, myotonia, skeletal dysplasia and severe fatal hyperthermia. The clinical spectrum of this syndrome is so wide that it easily baffles with more...
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