Note the disproportionate dwarfism, bowing of the legs, prominence of the buttocks, moderate lordosis. prominence of the ends of the long bones, and flexion contractures of the joints. 58 Ophthalmic Genet Downloaded from informahealthcare.com by University [docslide.com.br]

There was dif- fuse osteoporosis with short and anteriorly bulky ribs, square pelvis, severe ?oxa vara, marked thin- ning of the innominate bones, and poorly tabu- lated, markedly shortened long bones with irregu- lar metaphyses. [docslide.com.br]

Square pelvis. limbs, bowed legs, and lumbar lordosis. Body proportions are similar to those of achondropla- sia with an adult height of 102 to 137 cm (40 to 54 in). There is normal development of the skull, facies, trunk, and, mental status. [docslide.com.br]

Skeletal series (Fig. 4) revealed a large neu- rocranium, generalized platyspondyly involving all the vertebral segments with a typical 'fishmouth' appearance of the vertebral bodies and increase in the apparent size of the interspaces. [docslide.com.br]

Note the disproportionate dwarfism, bowing of the legs, prominence of the buttocks, moderate lordosis. prominence of the ends of the long bones, and flexion contractures of the joints. 58 Ophthalmic Genet Downloaded from informahealthcare.com by University [docslide.com.br]

In the elderly patient, CACD may be confused with AMD, especially in cases with decreased penetrance. [ncbi.nlm.nih.gov]

On color vision testing, the Farnsworth-Munsell Panel D-15 showed a nondiagnostic color confusion. [documents.tips]

Diffuse cone dystrophy can be confused with central areolar choroidal dys- trophy. However, patients with the former disease show a selective cone dysfunction with normal rod response (Berson 1993). [myslide.es]

Arteriovenous phase of the right macula of Case 2 is similar to left macula. late to walk or display a waddling gait with short Fig. 40-b. Radiological findings in Case 2. a. [docslide.com.br]

[…] oxa vara, marked thin- ning of the innominate bones, and poorly tabu- lated, markedly shortened long bones with irregu- lar metaphyses. [docslide.com.br]