Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as

rhizomelic Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder. According to Stedman's medical dictionary "rhizomelic" means "relating to ...

short stature and lateral

clavicular The clavicle, or collarbone, is a slender, S-shaped long bone approximately 6 inches (15 cm) long that serves as a strut between the shoulder blade and the sternum (breastbone). There are two clavicles, one on the left and one on the rig ...

defects. It is also known as Cleidorhizomelic syndrome. __TOC__

Presentation

An initial clinical report of this

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...

describes a 6-month-old boy with rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the

clavicle The clavicle, or collarbone, is a slender, S-shaped long bone approximately 6 inches (15 cm) long that serves as a strut between the shoulder blade and the sternum (breastbone). There are two clavicles, one on the left and one on the r ...

s. On

radiograph Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeut ...

s 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 joint The acromioclavicular joint, or AC joint, is a joint at the top of the shoulder. It is the junction between the acromion (part of the scapula that forms the highest point of the shoulder) and the clavicle. It is a plane synovial joint. Structure ...

s. Both the mother and the son had marked bilateral

clinodactyly Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common iso ...

of the fifth fingers associated with hypoplastic middle phalanx.

Diagnosis

References

External links

Congenital disorders of musculoskeletal system Autosomal dominant disorders Genetic disorders with OMIM but no gene Rare syndromes Syndromes with dysmelia {{musculoskeletal-disease-stub