Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

Garn, Stanley M.; Hertzog, Keith P.; Poznanski, Andrew K.; Nagy, Jerrold M.

doi:10.1148/105.2.375

Cited by 181 publications

(150 citation statements)

References 4 publications

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“…Typical findings of brachydactyly type C were not noted in either the proband or her father (Table l), when compared to an averaged metacarpophalangeal profile of affected individuals from a family with brachydactyly type C [13]. Skeletal measurements of all but one phalange of these two individuals were within three standard deviations of the age and sex specific mean [7]. Shortening of the first metacarpal and second and third middle phalanges is present in both individuals, but is not out of proportion to shortening of the other digits, and is not to the degree typically described for brachydactyly type C.…”

Section: Resultsmentioning

confidence: 79%

“…The functional mechanism of both mutations is predicted to be haploinsufficiency, but the exact effect of the R438C mutation is unknown and a dominant negative or gain of function effect of this mutation cannot be ruled out [4]. Our data gives further evidence for the importance of additional genetic or environmental factors in the variable expressivity seen in some families with the CDMP-1 syndrome of hand Table 1 Metacarpophalangeal profile of proband of family F (IV:l), her unaffected father who carries the same R428C CDMP-1 mutation (111:2), and mean profile of affected individuals from a single family with brachydactyly type C r131 Numbers reflect the standard deviation (SD) from age and sex matched standards [7]. and foot abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…Metacarpophalangeal pattern profiles were obtained according to the methods described in Garn et al [7], using published age and sex matched standards.…”

Section: Methodsmentioning

confidence: 99%

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Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

et al. 2005

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Isolated foot anomalies, including congenital vertical talus, were shown recently to occur in heterozygous carriers of CDMP-1 (cartilage-derived morphogenetic protein-1) gene mutations. Six families with isolated congenital vertical talus with apparent autosoma1 dominant inheritance were ascertained. DNA was isolated from 17 affected individuals and 24 unaffected individuals from these families and subjected to mutational analysis of the CDMP-1 gene. A missense mutation was identified (1312C>T) that results in an R438C substitution in the CDMP-1 active domain. This segregated with disease in one Northeren American family. Phenotypic variability in this family includes brachydactyly type C, clinodactyly, calcaneo valgus deformity, and congenital vertical talus. Metacarpophalangeal profiles (MCPPs) confirm incomplete penetrance in one family member. Hence, CDMP-1 mutations may be found in individuals with apparently isolated CVT, although careful examination of family members may reveal additional, subtle hand and foot abnormalities. However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus.

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Section: Resultsmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

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Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

et al. 2005

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“…Hand radiographs showed shortened digital rays with no carpal anomalies (Fig. 1b), and metacarpophalangeal pattern (MCPP) profile analysis 5 revealed a consistent wavy pattern with brachydactyly of all tubular bones with marked shortening of the first and third distal phalanges, second middle phalanx and first proximal phalanx (Fig. 1c).…”

Section: Figurementioning

confidence: 98%

Heart‐hand syndrome IV: a second family with LMNA‐related cardiomyopathy and brachydactyly

et al. 2016

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“…We derived a mean pattern profile from the 18 patients based on the average Z score for each bone Garn et al, 1972]. The pattern from each patient was compared to this group mean pattern and to each other using Pearsonian correlation coefficients.…”

Section: Correlation Studiesmentioning

confidence: 99%

Metacarpophalangeal pattern profile analysis in fragile X syndrome

Fletcher

et al. 1988

Am. J. Med. Genet.

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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.

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Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

Cited by 181 publications

References 4 publications

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Heart‐hand syndrome IV: a second family with LMNA‐related cardiomyopathy and brachydactyly

Metacarpophalangeal pattern profile analysis in fragile X syndrome

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