A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair .
* Osteopenia * Sparse hair * Mental retardation * Mild facial abnormalities * Loose joints * Reduced muscle tone * Prominent forehead * Wide set eyes * Large head * Large nose * Osteoporosis * Osteosclerosis * Low set ears * Webbed toes * Protruding jaw
* Contractural arachnodactyly * Osteomalacia * Xylosylprotein 4-beta-galactosyltransferase deficiency
A. Focused physical examination. Vital signs, weight, gait, posture, and silhouette. Is the patient kyphotic? Palpate the patient’s spine. B. Focal tenderness to suggest vertebral fracture. Observe other bones. Are they deformed? Does the male patient have signs of low testosterone? How is the patient’s balance? Is the patient at risk for falls? C. Additional physical findings. Note signs of poor nutrition or development.