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Brachydactyly and Pseudo-Pseudohypoparathyroidism*

Published online by Cambridge University Press:  01 August 2014

Keith P. Hertzog
Keith P. Hertzog*
Affiliation:
Dept. of Anthropology, University of Pennsylvania, Philadelphia, Pa Philadelphia Center for Researchin Child Growth and Development

Summary

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Shortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.

The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.

A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 17 , Issue 3 , July 1968 , pp. 428 - 438
Copyright
Copyright © The International Society for Twin Studies 1968

Footnotes

*

Supported in part by U.S.P.H.S. grants F1-GM-28 578, 5 Ti DE 00109, and DE 00087.

References

Acheson, R. M. 1966). Maturation of the skeleton. In: Falkner, F., Human Development. W. B. Saunders, Philadelphia.Google Scholar
Archibald, R. M. et al. (1959). Endocrine significance of short metacarpals. J. Clin. Endocr., 19: 1312.CrossRefGoogle ScholarPubMed
Arkless, R., Graham, C. B. 1967). An unusual case of brachydactyly. Amer. J. Roentgen., 99: 724.CrossRefGoogle ScholarPubMed
Bartter, F. C. 1966). Pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. In: Stanbury, J. B. et al., The Metabolic Basis of Inherited Disease. 2nd Ed., McGraw-Hill Book Co., N. Y. Google Scholar
Bell, J. 1951). On brachydactyly and symphalangism. In: Penrose, L. S., The Treasury of Human Inheritance, University Press, Cambridge.Google Scholar
Birkenfield, W. 1928). Uber die Erblichkeit der Brachyphalangie. Arch. Klin. Chir., 151: 611.Google Scholar
Boorstein, S. M. 1926). Symmetrical congenital brachydactylia. Surg. Gynec. Obstet., 43: 654.Google Scholar
Brailsford, J. F. 1945). Familial brachydactyly. Brit. J. Radiol., 18: 167.CrossRefGoogle Scholar
Brailsford, J. F. (1946). Familial brachydactyly with associated bilateral coxitis. Brit. J. Radiol., 19: 127.CrossRefGoogle ScholarPubMed
Brailsford, J. F. (1948). The Radiology of Bones and Joints. Williams and Wilkins Co., Baltimore.Google Scholar
Caffey, J. 1952). Chondroectodermal dysplasia (Ellis-van Creveld disease). Amer. J. Roentgen., 68: 875.Google ScholarPubMed
Cruz, C. E., Barnett, N. 1962). Mental retardation in pseudo-pseudohypoparathyroidism: case reports of siblings and review of literature. Amer. J. Ment. Defic., 67: 381.Google ScholarPubMed
Fischer, F. J., Vandemark, R. E. 1945). Bilateral symmetrical brachymetacarpalia and brachymetatarsalia. J. Bone Joint Surg., 27: 145.Google Scholar
Friedlaender, E. 1916). Beiträge zur Kasuistik der Brachydaktylie. Fortschr. Röntgenstr., 24::230.Google Scholar
Garn, S. M. et al. (1967). Brachymesophalangia of digit five in ten populations. Amer. J. Phys. Anthrop., 27: 205–210.CrossRefGoogle Scholar
Goeminne, L. 1965). Albright's hereditary polyosteochondrodystrophy. A.Ge.Me.Ge., 14: 226.Google Scholar
Goodman, R. M. et al. (1965). A genetic study of stub thumbs among various ethnic groups in Israel. J. Med. Genet., 2: 116.CrossRefGoogle ScholarPubMed
Gorman, C. A. et al. (1962). Significance of some skeletal singularities; preliminary observations. Proceed. Mayo Clinic, 37: 530.Google ScholarPubMed
Gray, D. J. et al. (1957). The prenatal development of the skeleton and joints of the human hand. Amer. J. Anal., 101: 169.CrossRefGoogle ScholarPubMed
Haws, D. V. 1963). Inherited brachydactyly and hypoplasia of the bones of the extremities. Ann. Hum. Genet., 26: 201.CrossRefGoogle ScholarPubMed
Hefke, H. W. 1940). Roentgenologic study of the anomalies of the hands in one hundred cases of mongolism. Amer. J. Dis. Child., 60: 1319.Google Scholar
Hefner, R. A. 1924). Inherited abnormalities of the fingers. II. Short thumbs (brachymegalodactylism). J. Hered., 15: 433.CrossRefGoogle Scholar
Hermans, P. E. et al. (1964). Pseudo-pseudohypoparathyroidism (Albright's hereditary osteodystrophy); a familial study. Proceed. Mayo Clin., 39: 81.Google Scholar
Hersh, A. H. et al. (1953). On the inheritance and development of clinodactyly. Amer. J. Hum. Genet., 5: 257.Google ScholarPubMed
Hertzog, K. 1967). Shortened fifth medial phalanges. Amer. J. Phys. Anthrop., 27: 113–118.CrossRefGoogle Scholar
Hortling, H. et al. (1960). Short metacarpal or metatarsal bones; pseudo-pseudohypoparathyroidism. J. Clin. Endocrin., 20: 466.CrossRefGoogle ScholarPubMed
Kohlmann, W. 1955). Ein Fall von Dysostosis Cleido-cranialis mit Brachymesophalangie Digit V. Fortschr. Roentgenstr., 83: 890.CrossRefGoogle Scholar
Laurent, Y., Brombart, M. 1953). Variation très rare de l'ossification des phalanges des orteils. J. Belge Radiol., 36: 102.Google Scholar
Mann, J. B. et al. (1962). Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism, with a report of two cases representing the complete syndrome occurring in successive generations. Ann. Intern. Med., 56: 315.CrossRefGoogle ScholarPubMed
McAfee, J. G., Donner, M. W. 1963). Differential diagnosis of radiographic changes in the hands. Amer. J. Med. Sci., 245: 592.Google Scholar
McKusick, V. 1966). Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Iinked Phenotypes. Johns Hopkins Press, Baltimore.Google Scholar
McKusick, V., Milch, R. A. 1964). The clinical behavior of genetic disease, selected aspects. Clin. Orthop., 33: 22.CrossRefGoogle ScholarPubMed
McNeeley, W. F. et al. (1956). Dyschondroplasia with soft tissue calcification and ossification and normal parathyroid function (“pseudo-pseudohypoparathyroidism”). Amer. J. Med., 21: 649.CrossRefGoogle Scholar
McNutt, W. 1962). Inherited vascular pattern of the femoral head and neck as predisposing factor to Legg-Calve-Perthes disease. Texas Rep. Biol. Med., 20: 525.Google ScholarPubMed
Miles, J., Elrick, H. 1955). Pseudo-pseudohypoparathyroidism; report of a new case. J. Clin. Endocr., 15: 576.CrossRefGoogle ScholarPubMed
Minozzi, M. et al. (1963). Su un caso di osteodistrofia ereditaria di Albright, varietà normocalcemica con documentata trasmissione da maschio a maschio. Folia Endocr., 16: 168.Google Scholar
Miskolczy, D. 1929). Erbliche Verkürzung der Mittelhandknochen und Schizophrenie. Arch. Psychiat. Nervenkr., 87: 242.CrossRefGoogle Scholar
Noback, C. R., Robertson, G. G. 1951). Sequences of appearance of ossification centers in the human skeleton during the first five prenatal months. Amer. J. Anat., 39: 1.CrossRefGoogle Scholar
O'Rahilly, R., Meyer, D. B. 1956). Roentgenographic investigation of the human skeleton during early fetal life. Amer. J. Roentgen., 76: 455.Google Scholar
Roche, A. F. 1961). Clinodactyly and brachymesophalangia of the fifth finger. Acta Paediat., 50: 387.CrossRefGoogle ScholarPubMed
Schmid, F., Junker, F. 1950). Die Brachymesophalangie des Kleinfingers. Z- Kinderheilk., 68: 399.CrossRefGoogle Scholar
Singleton, E. B., Holt, J. F. 1954). Myositis ossificans progressiva. Radiol., 62: 47.CrossRefGoogle ScholarPubMed
Stecher, R. M. 1957). The physical characteristics and heredity of short thumbs. Acta Genet., 7: 217.Google ScholarPubMed
Vartio, T., Meronen, R. 1961). Pseudo-pseudohypoparatyroidism. Duodecim, 77: 349.Google Scholar
Venning, P. 1961). Radiological studies of variation in ossification of the foot. 3. Cone shaped epiphyses of the proximal phalanges. Amer. J. Phys. Anthrop., 19: 131.CrossRefGoogle Scholar
Wallach, S. et al. (1956). The syndrome of pseudo-pseudohypoparathyroidism. Arch. Intern. Med., 98: 517.CrossRefGoogle Scholar
Wetzel, N. C. 1941). Physical fitness in terms of physique development and basal metabolism. J. Amer. Med. Ass., 116: 1187.CrossRefGoogle Scholar