Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Abstract

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.

Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome

“…Moreover, polydactyly is more common in the Verma-Naumoff short-rib polydactyly syndrome 2 . Recently, Ho et al 5 presented a nonconsanguineous family in which two siblings displayed a mild form of Jeune syndrome and one infant, of related parents, demonstrated SRPS type III (Verma-Naumoff syndrome). This family provides evidence that these conditions may represent variants of the same disorder.…”

“…In about two thirds of the cases the proximal femoral ossification centers are present at birth. The disease has a wide spectrum of manifestations ranging from a latent form to a mild or lethal condition 2,4,5 . In the severe form, respiratory failure leads to death in early infancy.…”

“…Overlap of Jeune syndrome with SRPS type III (VermaNaumoff), Ellis-van Creveld and orofacio -digital syndromes has been described 5,9 . Detection of Jeune syndrome in the second and third trimesters has been reported 3,[10][11][12][13] .…”

A Case Report on Jeune Syndrome in a Three Month Old Infant

“…The long bones are either normal or mildly shortened 4,5 . This syndrome is a rare multisystem skeletal dysplasia estimated to occur in 1 per 1,00,000-1,30,000 live births.…”

“…In severe cases the progressive respiratory failure may lead to death of neonate. Progressive renal failure is typical for mild form of asphyxiating thoracic dystrophy 5 .…”