Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Differential Diagnoses

Updated: May 01, 2019
  • Author: Santina A Zanelli, MD; Chief Editor: Maria Descartes, MD  more...
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Diagnostic Considerations

These include the following:

  • Diastrophic dysplasia

  • Barnes syndrome (thoracolaryngopelvic dysplasia) (OMIM 187760): This is an autosomal dominant disorder characterized by a small bell-shaped thorax, laryngeal stenosis, and small iliac wing and pelvis

  • Short rib polydactyly syndrome type I (Saldino-Noonan syndrome) (OMIM 263530): This is a lethal condition of newborns characterized by hydropic appearance, postaxial polydactyly, severely shortened and flipper-like limbs, and striking metaphysial dysplasia of tubular bones; the pelvis resembles that of Ellis-van Creveld syndrome and JS, with small ilia and osseous spurs projecting medially and laterally from the acetabular roofs; as in type II, polycystic kidneys, transposition of great vessels, and atretic lesions of the GI and genitourinary systems occur

  • Short rib polydactyly syndrome type II (Majewski syndrome) (OMIM 263520): This is a lethal entity characterized by median cleft lip, preaxial and postaxial polysyndactyly, short ribs and limbs, genital abnormalities, and anomalies of epiglottis and viscera

  • Short rib polydactyly syndrome type III (Verma-Naumoff syndrome) (OMIM 26351): This is a lethal entity characterized by a short cranial base, bulging forehead, depressed nasal bridge, and flat occiput; another difference is the radiologic appearance of the long tubular bones, which have a distinct corticomedullary demarcation, somewhat widened metaphyses, and marked longitudinal spurs

  • Short rib syndrome (Beemer-Langer syndrome) (OMIM 269860): This is a lethal entity characterized by hydrops, ascites, median cleft of the upper lip, narrow chest, and short, bowed limbs

Differential Diagnoses