Publications by authors named "Fleur Joor"

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.

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Peroneal tendon ruptures are caused by inversion trauma of the ankle and are often mistaken for simple ankle sprains. As a result, peroneal tendon ruptures are underdiagnosed; especially a concomitant rupture of both the brevis and longus tendons is extremely rare. We describe the case of concomitant rupture of both peroneal tendons in a 50-year-old male, diagnosed with magnetic resonance imaging and treated with a flexor digitorum longus tendon transfer.

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Teenagers with torticollis In this article we describe three cases of children with torticollis. A 17-year-old patient who appears to have Klippel-Feil syndrome and is treated conservatively. An 11-year-old-patient with torticollis, present since a fall two days earlier and attributed to a subluxation of C1-C2.

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Background: During mechanical ventilation of young children, problems may arise due to the additional dead space of the ventilation circuit. This may lead to respiratory acidosis and even hypoxia in the child.

Case Description: A 3-month-old boy suffered from frequent apnoea.

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