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

Achondrogenesis
Achondroplasia
Cartilage-Hair Hypoplasia
Ellis-van Creveld Syndrome
Genetics of Achondroplasia
Hypophosphatasia (HPP)
Short Rib Polydactyly Syndrome Types III and IV
Thanatophoric Dysplasia

Workup

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Media Gallery

An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
Note cystic renal dysplasia on the left kidney and renal hypoplasia on the right kidney.
Note the narrow chest and shortened ribs.
Note the shortened upper extremity with acromelic shortening.