Metacarpophalangeal Pattern Profile Analysis Research Articles

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

To assess the value of the metacarpophalangeal pattern profile (MCPP) analysis as a diagnostic tool for differentiating between patients with dyschondrosteosis, Turner syndrome, and hypochondroplasia. Radiographic and clinical data from 135 patients between 1 and 51 years of age were collected and analyzed. The study included 25 patients with hypochondroplasia (HCP), 39 with dyschondrosteosis (LWD), and 71 with Turner syndrome (TS). Hand pattern profiles were calculated and compared with those of 110 normal individuals. Pearson correlation coefficient (r) and multivariate discriminant analysis were used for pattern profile analysis. Pattern variability index, a measure of dysmorphogenesis, was calculated for LWD, TS, HCP, and normal controls. Our results demonstrate that patients with LWD, TS, or HCP have distinct pattern profiles that are significantly different from each other and from those of normal controls. Discriminant analysis yielded correct classification of normal versus abnormal individuals in 84% of cases. Classification of the patients into LWD, TS, and HCP groups was successful in 75%. The correct classification rate was higher (85%) when differentiating two pathological groups at a time. Pattern variability index was not helpful for differential diagnosis of LWD, TS, and HCP. Patients with LWD, TS, or HCP have distinct MCPPs and can be successfully differentiated from each other using advanced MCPP analysis. Discriminant analysis is to be preferred over Pearson correlation coefficient because it is a more sensitive and specific technique. MCPP analysis is a helpful tool for differentiating between syndromes with similar clinical and radiological abnormalities.

Metacarpophalangeal pattern profile analysis as a tool for early diagnosis of turner syndrome

To analyze the metacarpophalangeal pattern profile (MCPP) in a cohort of individuals with Turner syndrome (TS), and to assess its value as a tool for early diagnosis of TS. Medical records and radiological material were collected of 71 patients with TS aged between 3 and 21 years. Forty-six patients received growth hormone therapy (33-66 microg kg(-1) day(-1)) and 14 of these were also treated with the anabolic steroid oxandrolone (1.25-3.75 mg day(-1)). A total of 233 frontal hand radiographs were studied and pattern profiles were calculated. Profiles of the TS patients were compared with those of 70 normal females. Mean pattern profiles were calculated for different age groups and extrapolated profiles for newborns and infants were developed. Our results confirm that patients with TS have a distinct MCPP which differs significantly from that of normal individuals. A bone-shortening gradient with increasing shortening from distal phalanges to metacarpals was demonstrated. We also showed that the MCPP in TS is a remarkably constant feature from 3 to 18 years. Pattern profiles did not differ significantly between the patients with 45,X and non-45,X karyotype. MCPP was not affected by treatment with growth hormone of growth hormone plus oxandrolone. Discriminant analysis yielded correct classification in 88%, of analyzed cases. TS individuals have a distinct hand pattern profile that is not age-related. MCPP analysis can be applied at any age and may facilitate early diagnosis of TS. Our study showed that MCPP analysis is a specific and sensitive method that should be considered as a routinely used tool for early diagnosis of TS in girls with unexplained short stature.

Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

Metacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein-Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients. MCPP analysis in Rubinstein-Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic tool.

The hand in Smith–Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis

Brachydactyly has been described on physical examination in patients with Smith-Magenis syndrome (SMS). Metacarpophalangeal pattern profile analysis (MCPPPA), a method of graphic depiction of the relative size of the bones of the hand, has been used to objectively evaluate radiographs of the hand in patients with SMS in two small series: a single case and a study of four patients. This technique has confirmed brachydactyly and has suggested conflicting MCPPPA results. The purpose of our study was to evaluate the hand by MCPPPA in a large series of patients with SMS. We measured the bones of the hand and performed MCPPPA in 29 confirmed cases of SMS. Our results in 29 patients demonstrated a different MCPPPA in patients with SMS than previously reported. The analysis confirmed brachydactyly and the previously described trend of more pronounced shortening of the distal bones relative to the more proximal bones, but also demonstrated a previously undescribed pattern: relative enlargement of the proximal phalanx of the thumb and middle phalanx of the fifth finger. However, statistical analysis suggested that the pattern was not highly characteristic. MCPPPA of 29 patients with SMS demonstrates a pattern different than previously reported, but not highly characteristic.

Metacarpophalangeal pattern profile analysis of a sample drawn from a North Wales population

Sexual dimorphism and population differences were investigated using metacarpophalangeal pattern profile (MCPP) analysis. Although it is an anthropometric technique, MCPP analysis is more frequently used in genetic syndrome analysis and has been under-used in the study of human groups. The present analysis used a series of hand radiographs from Gwynedd, North Wales, to make comparisons, first, between the sexes within the sample and then with previously reported data from Japan. The Welsh sexes showed MCPP analyses that indicated size and shape differences but certain similarities in shape were also evident. Differences with the Japanese data were more marked. MCPP analysis is a potentially useful anthropometric technique but requires further statistical development.Geschlechtsdimorphismen und Bevölkerungsunterschiede wurden mit der Metacarpophalangeal- Analyse des Musterprofils (MCPP) untersucht. Obgleich es eine anthropometrische Technik ist, wird die MCPP-Analyse häufiger für die Analyse genetischer Syndrome verwendet und ist bei der Untersuchung menschlichen Gruppen unterrepräsentiert. Bei der durchgeführte Analyse werden eine Reihe von Handröntgenbildern von Gwynedd, Nordwales, verwendet, um zuerst einen Vergleich zwischen den Geschlechtern innerhalb der Stichprobe durchzuführen und dann diese mit früher erstellten nischen Daten zu vergleichen. Die MCPP-Analysen weisen auf Größen- und Formunterschiede bei den walisischen Geschlechtern hin, aber auch bestimmte Ähnlichkeiten in der Form waren vorhanden. Die Unterschiede zu den japanischen Daten waren deutlicher. Die MCPP-Analyse ist eine potentiell nützliche anthropometrische Technik, die aber statistisch weiterentwickelt werden muß.Les différences entre populations et le dimorphisme sexuel, sont étudiés au moyen d'une analyse du profil phalangométacarpien (PPM). Bien qu'il s'agisse d'une technique anthropométrique, l'analyse du PPM est plus fréquemment utilisée dans l'analyse de syndrome génétique et n'a que peu été employée pour l'étude de groupes humains. La présente étude utilise une série de radiographies de la main provenant de Gwynedd (nord du pays de Galles), pour comparer en premier lieu les deux sexes de l'échantillon, puis pour comparer les données galloises avec celles d'une étude antérieure effectuée au Japon. Les deux sexes gallois montrent des analyses du PPM qui indiquent des différences de forme et de format, mais qui montrent également à l'évidence certaines similarités de forme. Les différences avec les données japonaises sont plus marquées. L'analyse du PPM est une technique anthropométrique potentiellement utile, mais qui requiert plus de développement statistique.

Metacarpophalangeal pattern profile analysis in Noonan syndrome

Metacarpophalangeal pattern profile analysis in Noonan syndrome

Metacarpophalangeal pattern profile analysis in Noonan syndrome

Metacarpophalangeal pattern profile analysis in Noonan syndrome

The role of metacarpophalangeal pattern (MCPP) profile analysis in the treatment of triphalangeal thumbs: Description of a method and a case report

The metacarpophalangeal pattern (MCPP) profile analysis is a method of comparing the length of each of the 19 tubular bones of the hand on the X-ray with the standard length in the normal population according to age and sex. An MCPP plot is a graphic illustration of the MCPP analysis. It is not the exact height of the curve on the MCPP plot which is most important, but the profile which occurs because of the individual lengthening or shortening of the bones. This pattern profile appears to be specific for several congenital malformation syndromes. We have recently used MCPP analysis in planning surgery for triphalangeal thumbs. The percentage of excessive or reduced length of each individual bone of the hand can be read from the MCPP plot and is helpful in calculating a more accurate length for the newly created thumb. MCPP analysis can be used as a diagnostic tool in a number of congenital hand malformations, but may also be helpful in planning surgical treatment of congenital hand malformations when abnormal bone length is involved.

A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders.

A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders.

Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.

Triphalangeal thumb (TPT) is a rare congenital disorder characterised by a long, finger-like thumb with three phalanges instead of two. It can occur as an isolated defect, in association with...

Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome.

Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7 1/2 years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured without epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7 1/2 years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly.

Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome.

Metacarpophalangeal pattern profile (MCPP) was analyzed in 14 Japanese children (mean age 6.7 years old) with Sotos syndrome. The patients were divided into 2 groups based on age; group 1 (n = 8): 6 years or over; group 2 (n = 6): less than 6 years. The mean values of standard deviation of the 14 patients with obviously large hand were all above 1.4. The MCPP in group 1 showed (1) two major peaks in metacarpal and proximal phalangeal areas, (2) a small peak in middle phalangeal area, and (3) relatively short distal phalangeal bones compared with the metacarpal and proximal phalangeal bones. The MCPP in group 2 was similar to that in group 1, but an additional peak was observed in distal phalangeal area. The MCPP of Japanese patients showed a quite similar pattern to that of Caucasian patients, and we conclude the method can also be a useful tool in the diagnosis of the Japanese patients. In correlation study, 8 of the 14 patients had a significant positive correlation, but 2 patients in group 2, less than 3 years, had no positive correlation. We suggest the method is not applicable to young patients less than 3 years.

Metacarpophalangeal pattern profile analysis in Williams syndrome.

Many patients with Williams syndrome (WS) are not diagnosed until they are old enough to demonstrate the characteristic personality and facial changes. A number of these changes are quite subtle and none of them is present in all affected individuals. The cause of WS remains obscure and consequently, there are no cytogenetic, biochemical, or molecular studies to help in the diagnosis of patients in whom the diagnosis is uncertain. We have generated a mean WS metacarpophalangeal pattern profile (MCPP) on 21 clinically diagnosed individuals with WS. This mean syndrome profile shows that WS hands are smaller than average age-matched control hands and that the distal phalanx of the thumb is disproportionately large with respect to the rest of the hand. A mathematical model, which effectively discriminates WS patients from unaffected control individuals, was developed using discriminant analysis of the MCPP data. Of the 21 WS patients classified by this method, only 2 were misclassified as "normal." Similarly, 2 of the 24 control individuals were misclassified as "WS," yielding an over-all successful classification rate of 91%.

Metacarpophalangeal pattern profiles: Q‐score for ages from birth to 7 years

The metacarpophalangeal pattern profile (MCPP) analysis is a widely used method of standardization of bone length measurements to quantify congenital skeletal dysplasia of the hands. A main source of inaccuracy is the prominent scatter in the values of the standard deviation (S.D.) of the reference length, which is used in the calculation of the standardized values (Z-scores). Other sources of error, especially when bone length measurements of younger children are evaluated, are the rather large variability in the age of appearance of the epiphyses of the different bones, and the use of tabulated reference data which are available only at one-year intervals. We have devised another method of standardization of bone length measurements, by calculating the Q-score. Its advantages are that no S.D. values are needed and that more accurate results are obtained. Moreover the interpretation of the Q-scores is more straightforward than the interpretation of the Z-scores. Q-scores for 3 patients with Sotos syndrome are presented. Use of the MCPP in the form of the Q-score, will probably make it an even stronger tool than before.

IBM‐PC compatible software for establishing metacarpophalangeal pattern profiles

We briefly present software for performing metacarpophalangeal pattern (MCPP) profile analysis, which runs on generally available low-cost IBM (PC, XT, AT) and compatible PCs. The program is easy for the medical geneticist to handle and apply. We compared the mean MCPP of our own patients with Ullrich-Turner syndrome with the mean MCPP for Ullrich-Turner patients originally published by Poznanski.

Somatic development in cleidocranial dysplasia

As part of a more comprehensive investigation of general and craniofacial development in cleidocranial dysplasia (CCD), the present study describes general somatic development and analyzes longitudinal growth of 17 patients (seven males, ten females, aged 5-46 years) with CCD. Eleven were followed longitudinally. Data included family history, anthropometric measurements, and radiographs of the right hand and forearm. Height and radius length were significantly decreased, being most pronounced in females. The longitudinal growth data showed growth retardation and slightly retarded skeletal maturity throughout childhood. Metacarpophalangeal pattern profile analysis demonstrated great variation in bone lengths, presumably resulting from extra epiphyses in the 2nd and 5th metacarpals and from multiple cone-shaped epiphyses. Findings of the present study support the view that CCD is a generalized skeletal dysplasia.

Metacarpophalangeal pattern profile analysis in fragile X syndrome.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.

Metacarpophalangeal pattern profile analysis in a patient with ring (9)/del(9p) mosaicism

Metacarpophalangeal pattern profile analysis in a patient with ring (9)/del(9p) mosaicism

Acrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis

We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.

Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.

Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.