Wallis–Zieff–Goldblatt syndrome

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Wallis–Zieff–Goldblatt syndrome
Classification and external resources
Autosomal dominant - en.svg
Wallis–Zieff–Goldblatt syndrome has an autosomal dominant pattern of inheritance.
OMIM 119650

Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.[1] It is also known as Cleidorhizomelic syndrome.[2]

Clinical presentation[edit]

An initial clinical report of this syndrome describes a 6-month-old boy with rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the clavicles. On radiographs the lateral third of the clavicles had a bifid appearance resulting from an abnormal process or protuberance arising from the fusion center. His 22-year-old mother also had a height of 142 cm with an arm span of 136 cm and rhizomelic shortness of the limbs, maximal in the arms, and abnormalities of the acromioclavicular joints. Both the mother and the son had marked bilateral clinodactyly of the fifth fingers associated with hypoplastic middle phalanx.[1]

References[edit]

  1. ^ a b Wallis C, Zieff S, Goldblatt J (1988). "Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect". Am J Med Genet 31 (4): 881–5. doi:10.1002/ajmg.1320310422. PMID 3239579. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) Cleidorhizomelic syndrome -119650