The Pattern of Shortening of the Bones of the Hand in PHP and PPHP—A Comparison with Brachydactyly E, Turner Syndrome, and Acrodysostosis

Poznanski, Andrew K.; Werder, E A; Giedion, A; Martín, Allan; Shaw, H. J.

doi:10.1148/123.3.707

Cited by 88 publications

(49 citation statements)

References 22 publications

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“…The mean values of affected and unaffected bone lengths from 1 to 9 and 10 to 17 years of age were calculated for each bone and compared with mean values of age-matched reference values and illustrated as multiples of SD. 26 Blood pressure and heart rate were measured by an oscillometric device (every 2 minutes), 10 minutes in sitting and 20 minutes supine (Dynamap). We used cuffs of appropriate size.…”

Section: Methodsmentioning

confidence: 99%

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Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

et al. 2010

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Abstract-Affected individuals with autosomal-dominant hypertension with brachydactyly syndrome develop severe progressive hypertension and, if left untreated, develop stroke by age Ͻ50 years. In 1996 we described hypertension and brachydactyly and presented data on adults. We recently revisited this family and performed further studies, focusing particularly on the children in this family. We performed a genome-wide single-nucleotide polymorphism genotyping linkage analysis and confirmed our earlier linkage results. We accrued interesting ancillary data that we attribute to the rearrangements that we described earlier. We performed additional analysis focused on providing clinical criteria for the diagnosis in children and particularly to monitor the onset and to display the age-dependent development of hypertension and brachydactyly. We investigated 30 children; 12 were affected, whereas 18 were not. Brachydactyly with short stature presented as a maturing phenotype, becoming obvious during the prepubertal growth spurt. Stage 2 hypertension was already present in toddlers and increased with age. Thus, blood pressure measurement, rather than brachydactyly, was the most reliable phenotype for the very early diagnosis in children. Importantly, hypertension with brachydactyly occurs worldwide. Once the diagnosis is made, we recommend treatment of all individuals with stage 2 hypertension according to the current European and US guidelines on hypertension in children and adolescents. The decision to treat affected children has been more difficult. Thus, our objectives were to provide diagnostic and treatment criteria for HBS in childhood.The discovery of molecular mechanisms causing genetic hypertension has brought great insight into the regulation of salt-sensitive forms of hypertension. However, none of these syndromes have been convincingly linked to the pathogenesis of essential hypertension, although rare independent mutations in renal salt handling genes can contribute to blood pressure variation in the general population. 9 -16 HBS is the first mendelian form of hypertension that resembles essential hypertension, because renin, aldosterone, and norepinephrine responses are normal, and no salt sensitivity is present. 7 Other non-Turkish families that we have identified and the subjects reported here feature complex chromosomal rearrangements on the short arm of chromosome 12. 3 An almost identical locus on chromosome 12p was mapped in Chinese families with essential hypertension. 17 Furthermore, Harrap et al 18 identified this locus as being associated with postural changes in systolic and diastolic blood pressures. Patients with HBS have severe hypertension that progresses remarkably with age. A randomized double-blind, placebo-controlled, crossover medication trial revealed no pharmacological phenotype regarding medication classes in affected individuals. 5 Studies on the autonomic nervous system revealed decreased baroreflex sensitivity with significantly impaired blood pressure buffering. 4,19 A central n...

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Section: Methodsmentioning

confidence: 99%

“…Because brachydactyly type E also affects the epiphyses of long bones, the condition is associated with short stature. 26,28 The growth rate during childhood has 2 peaks. The first peak occurs after birth and decreases within the first 3 years of life exponentially.…”

Section: Toka Et Al Genetic Childhood Hypertension 991mentioning

confidence: 99%

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

et al. 2010

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“…The malformations involve both the phalanges and metacarpals and are often symmetrical (Wilson, 1994) (Figure 1b). Shortening of the distal phalanx of the thumb is estimated to occur in 75% of AHO patients (Poznanski, 1977). Similar shortening occur in the metacarpals.…”

Section: Brachymetaphalangismmentioning

confidence: 96%

“…The hand abnormalities in the PHP and PPHP forms of AHO are indistinguishable (Poznanski, 1977). The malformations involve both the phalanges and metacarpals and are often symmetrical (Wilson, 1994) (Figure 1b).…”

Section: Brachymetaphalangismmentioning

confidence: 99%

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Pseudohypoparathyroidism in Children

Nwosu¹

2011

Contemporary Aspects of Endocrinology

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Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis

et al. 1999

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Hand radiographs of 100 girls representing 73% of the known Australian population of girls with Rett syndrome, age 20 years or less, were available for this study. Control radiographs were matched for age, sex, and laterality. Bone age was assessed against standard radiographs in Greulich and Pyle [1959: Radiographic Atlas of Skeletal Development of the Hands and Wrist, 2nd ed.]. A metacarpophalangeal pattern (MCPP) profile comparing the relative lengths of the hand bones with mean population norms by age was produced by converting the length of each of the 19 metacarpal and phalangeal bones into a Z score. In girls less than 15 years old, bone age was more advanced in Rett syndrome than in age-matched control girls (left hand P = 0.03, right hand 0.004), but was most advanced in the younger group and normalized with age. In Rett syndrome, the mean Z score for the 19 metacarpal and phalangeal bones was 1.0 in children under 5 years, -0.27 in those aged 5-11 years, and -1.7 in those aged 12 years and over. This variation between age groups was much greater than in the controls. The dips in the MCPP profile occurred at MC2 and D1, and the peaks at M5, P5, and M4. An MCPP profile may provide an additional aid to diagnosis in cases of Rett syndrome where all the criteria are not met, but in children under age 5 years, advanced bone age may be more helpful as a marker.

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The Pattern of Shortening of the Bones of the Hand in PHP and PPHP—A Comparison with Brachydactyly E, Turner Syndrome, and Acrodysostosis

Cited by 88 publications

References 22 publications

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

Pseudohypoparathyroidism in Children

Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis

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