Metacarpophalangeal pattern profile analysis in leri‐weill dyschondrosteosis

Abstract

MCPP is not age-related and the analysis can be applied at any age, facilitating early diagnosis of LWD. In view of its availability, low costs, and diagnostic value, MCPP analysis should be considered as a routine method in the patients of short stature where LWD is suspected.

Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, turner syndrome, and hypochondroplasia

“…Radiological findings are rarely pathognomonic, unique, or universal. For example, non-increasing interpedicular distance in the lumbar spine, characteristic of hypochondroplasia, can also be observed in patients with achondroplasia, dyschondrosteosis, and in normal individuals (16,19,29). Similarly, the metacarpal sign, a characteristic of Turner syndrome, is observed in a number of syndromes, such as pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, basal nevus syndrome, dyschondrosteosis, and also in a significant percentage of normal individuals (9,15,18,21,24).…”

“…Characteristic pathological hand pattern profiles have been described for a number of skeletal dysplasias and malformation syndromes (22,23). It has also been shown that, in contrast to the clinical and radiological abnormalities, the hand pattern profile is a fairly constant feature (18,19). It is most likely determined during fetal life and remains relatively unchanged with increasing age.…”

“…We used diagnostic criteria described by HALL et al (13) to include our HCP patients in this study. The diagnostic inclusion criteria for LWD patients are detailed in our previous study (19). Mutation in the SHOX (short stature homeobox) gene was found in 33 of 39 (85%) patients with LWD.…”

“…MCPP analysis offers a graphical presentation of the relative lengths of the hand bones and therefore renders even minor alterations of the hand skeleton apparent. High sensitivity and specificity of the method have been demonstrated (18,19).…”

Radiographic Evaluation of Children with Growth Disorders

“…These Z-scores for the 19 hand bones are plotted in graphics, which shows that different syndromes have different patterns. Specific MCPPs have, among others, been published for achondroplasia, Robinow syndrome, Noonan syndrome, Turner syndrome and Leri-Weill dyschondrosteosis [27,28,29,30,31]. In most cases an MCPP analysis is used to help support a certain diagnosis, especially when molecular analysis to confirm the diagnosis is not possible.…”