暂无摘要。

A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contractures with restricted movement, failure to thrive, hypertonia, and camptodactyly of the index fingers. During infancy, the baby is noted to have sucking and swallowing difficulties necessitated nasogastric tube feeding, and recurrent respiratory distress episodes with frequent admissions due to respiratory failure required intensive care admission and mechanical ventilation. The skeletal survey demonstrated dysplasia of long bones and spine. To investigate a suspect genetic syndrome, a whole-exome sequencing test was performed, which identified a novel homozygous mutation in the LIFR gene.

Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a poor prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. This patient has outlived the life expectancy described for SWS, acknowledging the importance of reporting this rare adult clinical case in what SWS anesthetic management is concerned.

Stüve-Wiedemann syndrome is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowed long bones, joint restrictions, hyperthermic episodes, dysautonomia, and respiratory and feeding difficulties, that usually leads to early mortality. Cutaneous manifestations have rarely been reported. We report the case of a girl with Stüve-Wiedemann syndrome presenting with progressive development of multiple eruptive vellus hair cysts.

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.