Weissenbacher- Zweymuller syndrome

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


合計: 2

                       


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PMID (PMCID)
8456835
 MALE
Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect.
Ramer JC, Eggli K, Rogan PK, Ladda RL.
Am J Med Genet. 1993;45(5):614-8.
Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymuller syndrome (WZS), a rare skeletal dysplasia, evident neonatally.
1415350
 MIXED_SAMPLE Child
Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.
Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.
Am J Med Genet. 1992;43(6):989-95.
Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.