Endocrine Significance of Short Metacarpals

Archibald, Reginald M.; Finby, Nathaniel; Vito, Francesco

doi:10.1210/jcem-19-10-1312

Cited by 84 publications

(34 citation statements)

References 10 publications

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“…bone structure and shape in Turner's syndrome [2,6], brachymetacarpia in pseu dohypoparathyroidism or pseudopseudohy poparathyroidism [8], osteoporosis, dysos toses, and others. To recognize such condi tions, each radiography which is evaluated in the TGE system is shown to a consulting spe cialized physician before the final result of the analysis is accepted.…”

Section: Discussionmentioning

confidence: 99%

Importance and Accuracy of Bone Age Ratings in a Computerized Growth Evaluation System

Zachmann¹,

Frasier²,

McLaughlin³

et al. 1983

Horm Res

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Bone age ratings according to Greulich and Pyle and to Tanner and co-workers (RUS) of 88 children from two pediatric endocrine centers were compared with ratings from 2 trained technicians and independent ratings from a consulting pediatric endocrinologist. Considering the mean of all ratings as ‘true bone age’, the mean errors of the individual estimations were small (0.15-0.38 years for the Greulich and Pyle method, 0.12-0.27 years for the method according to Tanner and co-workers). Only in 2 of 338 ratings were differences larger than 1 year observed. In these 2 cases, there was marked dissociation between the maturation of carpal and phalangeal bones. It is concluded that estimations of bone maturation can be carried out reliably by properly trained technicians.

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Section: Discussionmentioning

confidence: 99%

Importance and Accuracy of Bone Age Ratings in a Computerized Growth Evaluation System

Zachmann¹,

Frasier²,

McLaughlin³

et al. 1983

Horm Res

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“…Metacarpophalangeal pattern profiling was performed according to the technique of Garn et al [1972] and Poznanski et al [1972] [de Sanctis et al, 2004. Radiographic evidence of the Archibald metacarpal sign was also sought [Archibald et al, 1959] (see supporting information Table 1 and supporting information Fig. 1 which may be found in the online version of this article).…”

Section: Methodsmentioning

confidence: 99%

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

Ngai

Chijiwa

Mercimek-Mahmutoglu

et al. 2010

American J of Med Genetics Pt A

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Pseudohypoparathyrodism (PHP) is a disorder caused by mutations in the guanine nucleotide-binding α-subunit (GNAS). We sought to determine the genetic origin of PHP1a in one affected family. We identified the previously reported Gsα R231H mutation in family members affected with PHP1a. DNA analysis found that the two clinically affected sons are heterozygous for the mutation. The sons have PHP1a, manifesting obesity, intellectual disability, hypogonadism, hypothyroidism and elevated PTH levels. Initial DNA sequencing did not detect the mutation in either parent. However, their mother displayed some features of PHP, including elevated PTH levels and asymmetrical metacarpal shortening. Using molecular cloning, we detected the mutation at low levels in the mother's leukocyte DNA, consistent with somatic mosaicism and her mildly affected status. Thus, we have identified additional cases of PHP1a caused by the Gsα R231H mutation. In this family, the mother has a milder phenotype due in part to somatic mosaicism, whereas the two affected sons have full PHP1a. Though somatic mosaicism for activating GNAS mutations is known to occur in McCune-Albright syndrome, this is the first report confirming somatic mosaicism for a hypofunctioning GNAS mutation in a PHP kindred.

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“…The presence of a short fourth metacarpal was evaluated by Archibald's metacarpal sign [8] and-Kosowicz's phalangeal sign [9]. Arachnodactly was suggested by an abnormally high metacarpal index calculated according to the Sinclair method [1o, 111.…”

Section: Methodsmentioning

confidence: 99%

Short fourth metacarpal in homocystinuria

et al. 1985

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Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive multisystem disease which affects the eye, the cardiovascular system, the central nervous system, the skeleton and occasionally other organs. Archibald's metacarpal sign and Kosowicz's phalangeal sign were evaluated in 11 patients with homocystinuria. A short fourth metacarpal was demonstrated in four patients. Our study represents, to our knowledge, the first systematic evaluation of these skeletal signs in a rather large group of homocystinuric patients.

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Endocrine Significance of Short Metacarpals

Cited by 84 publications

References 10 publications

Importance and Accuracy of Bone Age Ratings in a Computerized Growth Evaluation System

Importance and Accuracy of Bone Age Ratings in a Computerized Growth Evaluation System

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

Short fourth metacarpal in homocystinuria

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