Clinical Review : Abnormal Thumbs and Physical Diagnosis

Berry, T.J. : The Hand as a Mirror of Systemic Disease. Philadelphia , F. A. Davis Co., 1963.

Kaplan, E.B. : Functional and Surgical Anatomy of the Hand. Philadelphia , J. B. Lippincott Company, 1965 .

Bunnell's Surgery of the Hand. Revised by L.H. Boyes , 4th ed. Philadelphia, J. B. Lippincott Company, 1964.

O'Rahilly, R. : Radial hemimelia and the functional anatomy of the carpus. J. Anat. 80: 181, 1946.

Kato, K. : Congenital absence of radius. J. Bone Joint Surg. 6: 589, 1924.

Pardini, A. : Radial dysplasia. Clin. Orthop. 57: 153, 1968.

Lenz, W. : Malformations caused by drugs in preg nancy. Amer. J. Dis. Child. 112: 99, 1966.

Gorlin, R.J. and Pindborg, J.J. : Syndromes of the Head and Neck. New York, McGraw-Hill, 1964, pp. 349-350.

Wilson, R.A. : Ankyloglossia superior (palato-glossal adhesion in the newborn infant). Pediatrics 31: 1051, 1963 .

Silver, K. : Rothmund-Thomson syndrome; an oculocutaneous disorder. Amer. J. Dis. Child. 111: 182, 1966.

Bilbrey, G.L. : Isolated congenital familial thumb deformities . New Eng. J. Med. 274: 1057, 1966.

Birch-Jensen, A. : Congenital Deformities of the Upper Extremities . Copenhagen, Munksgaard, 1949, p. 207.

Holt, M. and Oram, S. : Familial heart disease with skeletal malformations. Brit. Heart J. 22: 236, 1960.

McKusick, V.A. : Medical genetics 1960. J. Chronic Dis. 14: 1, 1961.

Chang, C.H. : Holt-Oram syndrome. Radiology 88: 479, 1967.

Lewis, K.B. , Bruce, R.A. , Baum, D. and Motulsky, A.G. : The upper limb-cardiovascular syndrome, an autosomal dominant genetic effect on embryogenesis. JAMA 193: 1080, 1965.

Harris, L.C. and Osborne, W.P. : Congenital absence or hypoplasia of the radius with ventricular septal defect; ventriculo-radial dysplasia. J. Pediat. 68: 265, 1966.

Juhl, J.H. , Wesenberg, R.L. and Gwinn, J.L. : Roentgenographic findings in Fanconi's anemia. Radiology 89: 646, 1967.

McDonald, R. and Goldschmidt, B. : Pancytopenia with congenital defects (Fanconi's anemia). Arch. Dis. Child. 35: 367, 1960.

Aase, J.M. and Smith, D.W. : Congenital anemia and triphalangeal thumbs; a new syndrome. J. Pediat. 74: 471, 1969.

Breitenbecher, J.K. : Hereditary shortness of thumbs. J. Hered. 14: 15, 1923.

Blair, R.H. and Martin, J.K. : A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. J. Pediat. 69: 457, 1966.

Pinsky, L. and DiGeorge, A.M. : A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female. Ibid. 66: 1049, 1965.

Smith, D.W. , Lemli, L. and Opitz, J.M. : A newly recognized syndrome of multiple congenital anomalies. Ibid. 64: 210, 1964.

Riley, H.D. and Christie, A. : Myositis ossificans progressiva. Pediatrics 8: 753, 1967.

Gorlin, R.J. , Sedano, H.O. and Cervenka, J. : Popliteal pterygium syndrome; a syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Ibid. 41: 503, 1968.

Kelln, E.E. , Bennett, C.G. , and Klingberg , W.G. : Aglossia-adactylia syndrome. Amer. J. Dis. Child. 116: 549, 1968 .

Rubinstein, J.H. and Taybi, H. : Broad thumbs and toes and facial abnormalities; a possible mental retardation syndrome. Ibid. 105: 588, 1963.

Bell, J. : On brachydactyly and symphalangism. In Pearson, K. , ed.: Treasury of Human Inheritance, vol. 5. London, Cambridge University Press, 1951, pp. 1-31.

Jancar, J. : Rubinstein-Taybi's syndrome. J. Ment. Defic. Res. 9: 265, 1965.

Robinson, G.C. , Miller, J.R. , Cook, E.G. , and Tischler , B. : Broad thumbs and toes and mental retardation; unusual dermatoglyphic observations in two individuals . Amer. J. Dis. Child. 111: 287, 1966.

Giroux, J. and Miller, J.R. : Dermatoglyphics of the broad thumb and great toe syndrome. Ibid. 113: 207, 1967.

Sinnette, C. and Odeku, E.L. : Rubinstein-Taybi snydrome; the first case recognized at birth. Clin. Pediat. 7: 488, 1968.

Johnson, C.F. : Broad thumbs and broad great toes with facial abnormalities and mental retardation. J. Pediat. 68: 942, 1966.

Lowry, M.F. : Rubinstein-Taybi syndrome. JAMA 206: 2744, 1968.

Roy, F.H. , Summitt, R.L. , Hiatt, R.L. and Hughes, J.G. : Ocular manifestations of the Rubinstein-Taybi syndrome. Arch. Ophthal. 79: 272, 1968.

Taybi, H. and Rubinstein, J.H. : Broad thumbs and toes and unusual facial features . Amer. J. Roentgen. 93: 362, 1965.

Gellis, S.S. , and Feingold, M. : Atlas of Mental Retardation Syndromes. U. S. Department of Health, Education and Welfare, U. S. Government Printing Office, 1968, pp. 116-117.

Larsen, L.J. , Schottstaedt, E.R. and Bost, F.C. : Multiple congenital dislocations associated with characteristic facial abnormality. J. Pediat. 37: 574, 1950.

Watson-Jones, R. : Leri's pleonosteosis, carpal tunnel compression of the median nerves and Morton's metatarsalgia. J. Bone Joint Surg. 31-B: 560, 1949.

Smith, D.W. : The no. 18 trisomy and D1 trisomy syndromes. Pediat. Clin. N. Amer. 10: 389, 1963.

James, A.E. , Belcourt, C.L. , Atkins, L. and Janower, M.L. : Trisomy 13-15. Radiology 92: 44, 1969.

Bray, P.F. and Sister Ann Josephine: Partial autosomal trisomy and translocation; report of an infant with multiple congenital anomalies. JAMA 187: 566, 1964 .

Langer, L.O. : Diastrophic dwarfism in early infancy. Amer. J. Roentgen. 93: 399, 1965.

Fletcher, M.J. and Leonard, F. : The principles of artificial-hand design . Artif. Limbs 2: 78, 1955.

Uchida, I.A. : Trisomy 22 linked to congenital defects. Pediat. News 2: 31, 1968.

Falek, A. , Schmidt, R. and Jervis, G.A. : Familial de Lange syndrome with chromosomal abnormalities. Pediatrics 37: 92, 1966.

Gerald, P.S. : Minute finger, toe nails found with retardation . Pediat. News, July 1969.

Holman, G.H. , Erkman, B. , Zacharias, D.L. and Koch, F.H. : The 18-trisomy syndrome; two new clinical variants. New Eng. J. Med. 268: 982, 1963.

Finley, W.H. , Finley, S.C. and Carte, E.T. : 17-18 trisomy syndrome; review and report of a case. Amer. J. Dis. Child. 106: 591, 1963 .

Geiser, C.F. and Schindler, A.M. : Long survival in a male with 18-trisomy syndrome and Wilms' tumor. Pediatrics 44: 111, 1969.

James A.E. , Belcourt, C.L. , Atkins, L. and Janower, M.L. : Trisomy 18. Radiology 92: 37, 1969.

Gagnon, J. , Archambault, L. , Laberge, E. and Katyk-Longtin, N. : Trisomie partielle 18 par insertion ou translocation 4/18. Un. Med. Canada 92: 311, 1963.

Byme, J.J. : The Hand; Its Anatomy and Diseases. Springfield, Charles C Thomas, 1959.

Rubin, A. : Handbook of Congenital Malformations. Philadelphia, W. B. Saunders Co., 1967.

Weyers, H. : Hexadactylie, Unterkieferspalt und Oligodontie; ein neuer Symptomen Komplex; Diastosis acrofacialis. Ann. Paediat. 181: 45, 1953.

Ellis, R.W.B. and Van Creveld, S. : A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis. Arch. Dis. Child. 15: 65, 1940.

Goltz, R.W. , Peterson, W.C. , Gorlin, R.J. and Ravits, H.G. : Focal dermal hypoplasia syndrome. A.M.A. Arch. Dermat. 86: 708, 1962.

Kaslick, R.S. and Brustein, H.C. : Epidermolysis bullosa; review of literature and report of a Case. Oral Surg. 14: 1315, 1961 .

Walzer, S. , Favara, B. , Ming, P.L. and Park, G.S. : A new translocation syndrome (3/B). New Eng. J. Med. 275: 290, 1966.

Potter, E.L. : Pathology of the Fetus and the Newborn, 2nd ed. Chicago, Yearbook Publishers, Inc., 1961.

Bass, H.N. : Familial absence of middle phalanges with nail dysplasia; a new syndrome. Pediatrics 42: 318, 1968.

Rimoin, D.L. and Edgerton, M.T. : Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J. Pediat. 71: 94, 1967.

Lapidus, P.W. and Guidotti, G. : Triphalangeal bifid thumb. Arch. Surg. 49: 228, 1944.

Sallam, A.M. : Triphalangeal thumbs. A.M.A. Arch. Surg. 71: 257, 1955.

Gates, R.R. : Human Genetics, 1st ed. New York , Macmillan Co., 1946, p. 413.

Kanof, A. , Aronson, S.M. and Volk, B.W. : Arthrogryposis ; a clinical and pathological study of three cases. Pediatrics 17: 532, 1956.

Weinstein, S. and Gorlin, R.J. : Cranio-carpo-tarsal dysplasia or the whistling face syndrome. Amer. J. Dis. Child. 111: 427, 1969 .

Cutler, C.W. : The Hand; Its Disabilities and Diseases. Philadelphia, W. B. Saunders, 1942.

Feingold, M. : The "thumb sign" in children. Clin. Pediat. 7: 423, 1968.

Napier, J.R. : Studies of the hands of living primates. Proc. Zool. Soc. (London) 134: 647, 1960 .

Spier, J. : The Hands of Children; An Introduction to Psychochirology. London, Kegan, Trench, Trubner and Co., Ltd., 1944.