Jeune syndrome: Asphyxiating thoracic dystrophy and its genetic diagnosis – A rare case report

Abstract

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare multisystem potentially lethal skeletal dysplasia. It has an estimated incidence of 1/100,000-130,000 live births. A term outborn female neonate born by vaginal delivery to a primigravida mother, presented to our neonatal intensive care unit with severe respiratory distress since birth. The baby was noticed to have multiple characteristic skeletal anomalies including small bell-shaped thorax and short limbs leading to the clinical diagnosis of Jeune syndrome. Whole genome sequencing was done which confirmed the diagnosis. A correct clinical and genetic diagnosis in index cases of Jeune syndrome should be established to facilitate prenatal diagnosis and genetic counseling.

Jeune syndrome: Case report

“…The diagnosis is based on the clinical and radiological findings [4,6] and can be confirmed by genetic tests [4]. The most common gene mutation associated with this condition is DYNC2CH1 mutation, found in 50% of the cases [3]. In the present case we described a male baby who fulfilled clinical and radiographic criteria for Jeune syndrome.…”

“…Jeune syndrome (also known as thoracic asphyxiant syndrome) is a rare skeletal ciliopathy in which there exist a primary dysfunction of the cilia [2,4]. It is known to be a hereditary condition with an autosomal recessive pattern [3]. Even Though the clinical presentation can vary between one individual and other, the classic clinical and radiological findings are: narrow thoracic cavity (bell shaped), short limbs, horizontal ribs, abnormal costochondral joints, trident appearance of the acetabula, elevated clavicle [3,4], some others may have kidney, liver or renal abnormalities and retinal degeneration [5].…”

“…The diagnosis is made by clinical features and radiological findings including small narrow and rigid bell-shaped thorax, horizontal ribs, short tubular bones, micromelia, polydactyly, underdeveloped iliac wing (trident acetabulum), relatively large head, renal anomalies, and retinal degeneration [1,3]. Severity and clinical manifestations vary on each person due to genetic heterogeneity [3].…”

“…Survival rate after the neonatal period is poor [1]. It has been reported up to 90% of mortality in the neonatal period [3]. The most common cause of disease is respiratory failure because of alveolar hypoventilation due a restrictive thoracic cage [1].…”

“…The most common cause of disease is respiratory failure because of alveolar hypoventilation due a restrictive thoracic cage [1]. The ones who survive the neonatal period may present in later stages of life renal, hepatic, ocular, and pancreatic complications [3].…”