Hostname: page-component-cd9895bd7-fscjk Total loading time: 0 Render date: 2024-12-25T03:06:56.538Z Has data issue: false hasContentIssue false
  • English
  • Français

A New probably X-Linked Inherited Syndrome: Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal Dysplasia

Published online by Cambridge University Press:  01 August 2014

Luc Goeminne
Luc Goeminne*
Affiliation:
Medical Clinic, University of Ghent Ophthalmological Clinic, Dept. of Human Genetics, University of Ghent

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A kindred is described with a probably new “cervico-dermo-reno-genital syndrome”, comprising a congenital muscular torticollis, multiple spontaneous keloids, cryptorchidism, pyelonephritis and other anomalies.

We believe that in this observation a single gene is responsible for the multiple mesodermal and ectodermal defects. Pleiotrophic effects of a single X-linked gene is the most likely possibility for this inborn error of connective tissue.

From an extensive review of the literature we may conclude that the nosological association of congenital muscular torticollis, multiple spontaneous keloids and cryptorchidism has thus far never been published.

Sex linked or sex limited inheritance for congenital muscular torticollis or multiple keloidosis has not yet been published with certainty.

Our observation and the frequent keloidosis in gonadal dysgenesis, may suggest the presence of gene material on the X-chromosome responsible for connective tissue hyperplasia.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 17 , Issue 3 , July 1968 , pp. 439 - 467
Copyright
Copyright © The International Society for Twin Studies 1968

References

Alibert, J. L. M. (1806). Description des Maladies de la Peau Observées à l'Hôpital Saint-Louis et Exposition des Meilleures Méthodes Suivies pour leur Traitement. Barnois, Paris.Google Scholar
Alibert, J. L. M. (1814–1925). Clinique de l'Hôpital Saint-Louis ou Traité Complet des Maladies de la Peau. Paris.Google Scholar
Alibert, J. L. M. (1817). Quelques recherches sur la chéloïde. Mem. Soc. Med. Emul. Google Scholar
Alibert, J. L. M. (1818). Précis Théorique et Pratique sur les Maladies de la Peau. Caille et Ravies.Google Scholar
Alibert, J. L. M. (1825). Description des Maladies de la Peau. Ilème Ed. Wahlen A., Bruxelles.Google Scholar
Armstrong, S. et al. (1965). Torticollis: an analysis of 271 cases. Plast. Reconstr. Surg., 35: 14.CrossRefGoogle ScholarPubMed
Autenrieth, K. (1939). Ein Beitrag zur Kenntnis der Vererbung des Kryptorchismus beim menschen. Thèse. Erlangen.Google Scholar
Barcat, J., Godard, F. (1962). Traitement du torticollis congénital. J. Chir., 84: 335.Google Scholar
Barenfeld, P. A. et al. (1963). Congenital muscular torticollis: case reports in siblings. Bull. Hasp. Joint Dis., 24: 130.Google ScholarPubMed
Bauer, A. (1913). Der Schiefhals. Erg. Chir., 5: 191.Google Scholar
Bauer, K. H., Bode, W. (1940). Erbpathologie der Stützgewebe beim Menschen. In: Handbuch der Erbpathologie des Menschen. J. Springer, Berlin.Google Scholar
Becker, P. E. (1964). Angeborener muskulärer Schief hals (Torticollis) in Myopathien. Humangenetik. G. Thieme Verlag.Google Scholar
Bergstrand, G. G., Quist, O. (1965). Treatment of the undescended testis. Acta Endocrin. (Suppl.), 101: 10.Google Scholar
Biberstein, H. (1932). Histologie des Fibrome und Keloïde. In: Hdb der Haut- und Geschlechtskrankheiten. Hsg. Jadassohn. Springer, Berlin.Google Scholar
Birkenfeld, W. (1929). Kryptorchismus und Leistenbruch bei eineiïgen Zwillingen. Deutsch. Med. Wschr., 55: 1043.CrossRefGoogle Scholar
Bishop, P. M. F. (1945). Studies in clinical endocrinology. Undescended testicle. Guys Hasp. Rep., 94: 12.Google Scholar
Bloom, D. (1947). Multiple keloids in twin sisters. Arch. Derm. Syph., 55: 3, 426.Google ScholarPubMed
Bloom, D. (1956). Heredity of keloids. New York J. Med., 56: 511.Google ScholarPubMed
Blumentgal, M. (1900). Zur Atiologie des angeborenen muskulären Schiefhalses. Arch. Kinderheilk., 30: 76.Google Scholar
Boczkowski, K., Teter, J. (1965). Familial male pseudohermaphroditism. Acta Endocr., 49: 4, 497.Google ScholarPubMed
Bowen, P. et al. (1965). Hereditary male pseudo-hermaphroditism with hypogonadism, hypospadias and gynecomastia (Reifenstein's syndrome). Ann. Int. Med., 62: 2, 252.Google Scholar
Brimblecombe, S. L. (1946). Bilateral cryptorchidism in three brothers. Brit. Med. J., 1: 526.CrossRefGoogle ScholarPubMed
Brunzema, D. (1929). Uber den Kryptorchismus und seine Behandlung. Arch. Klin. Chir., 154: 754.Google Scholar
Busch, (1920). Cit. Becker.Google Scholar
Bunge, R. G., Bradbury, J. T. (1959). Two unilaterally cryptorchid boys with spermatogenic precocity in the descended testis, hypertelorism and Polydactyly. J. Clin. Endocr., 19: 1103.CrossRefGoogle ScholarPubMed
Cauci, A. (1951). Contro la terapia ormonica dell'ectopia testicolare. Acad. Med., 66: 90.Google Scholar
Chandler, F. A., Altenberg, A. (1944). “Congenital” muscular torticollis. J. Amer. Med. An., 125: 476.Google Scholar
Chappell, J. A., Kelsey, W. M. (1960). Hereditary nephritis. A.M.A. J. Dis. Child., 99: 401.Google ScholarPubMed
Charny, C. W., Wolgin, W. (1957). Cryptorchism. Cassel Co., London.Google Scholar
Cockayne, E. A. (1933). Inherited Abnormalities of the Skin and its Appendages. Oxford Press.Google Scholar
Cohen, M. M. et al. (1961). A genetic study of hereditary renal dysfunction with associated nerve deafness. Amer. J. Hum. Gen., 13: 379.Google ScholarPubMed
Colley, J. R. et al. (1958). The renal lesion in angiokeratoma corporis diffusum. Brit. Med. J., 1: 1266.CrossRefGoogle ScholarPubMed
Copelmen, L. S. (1965). Un test pathognomique des malformations congénitales: le signe du deuxième orteil. Rev. Path. Comp., 65: 765.Google Scholar
Corbus, B. C., O'Connor, V. J. (1922). The familial occurrence of undescended testes. Report of six brothers with testicular anomalies. Surg. Gynec. Obstet., 34: 237.Google Scholar
Cosman, B. et al. (1961). The surgical treatment of keloids. Plast. Reconstr. Surg., 27: 335.CrossRefGoogle Scholar
Coventry, M. B., Harris, L. E. (1959). Congenital muscular torticollis in infancy. J. Bone Joint Surg., 41: 815.Google ScholarPubMed
Dardel, G. (1917). Klinische Erfahrungen über Kryptorchismus. Deutsch. Z. Chir., 142: 1.CrossRefGoogle Scholar
Davidson, I., Newberger, C. (1933). Congenital valves of the posterior urethra in twins. Arch. Path. (Chicago), 16: 57.Google Scholar
De La Chapelle, A. et al. (1963). Cytogenetical and clinical observations in male hypogonadism. Acta Endocr. (Kbn), 44: 165.Google Scholar
Dempsey, H. et al. (1965). Fabry's disease: case report on a rare disease. Ann. Int. Med., 63: 6, 1069.CrossRefGoogle ScholarPubMed
De Thibault, M. (1964). Les chéloïdes et leur traitement. Acta Chir. Belg., 63: 2, 141.Google Scholar
Dieffenbach (1913). Cit. Bauer.Google Scholar
Doephmer, R. (1964). Arch. Klin. Exp. Derm., 219: 884.CrossRefGoogle Scholar
Doerr, K. H. (1940). Uber die Vererbung von Leistenhoden bei Haustieren und Menschen. Dissertation. Berlin.Google Scholar
Domrich, H. (1938). Der Leistenhoden. Münch. Med. Wschr., 46.Google Scholar
Dorn, H. (1957). Keloidbildung nach Revaccination bei eineiïgen Zwillingen. Z. Haut. Geschl. Kr., 23: 78.Google Scholar
Drehmann, (1928). Diskussion zum Schiefhals. Verh. Deutsch Orthop. Ges. Prag. Google Scholar
Drucker, W. D. et al. (1963). The testis in myotonic dystrophy: a clinical and pathologic study with a comparison with the Klinefelter syndrome. J. Clin. Endocr., 23: 59.CrossRefGoogle Scholar
Duis, B. T. (1956). Zwillingskatamnesen. A.Ge.Me.Ge., 5: 14.Google Scholar
Edgerton, M. T. et al. (1951). Use of vitamin E in the treatment of keloids. Plast. Reconstr. Surg., 8: 224.CrossRefGoogle ScholarPubMed
Esteve, P. (1954). Torticollis congenital. Sent. Hop. (Paris), 30: 3608.Google Scholar
Federman, D. D., Scully, R. E. (1965). Chronic pulmonary disease in a eunuchoid patient. New Engl. J. Med., 273: 15, 816.CrossRefGoogle Scholar
Felton, L. M. (1959). Should intravenous pyelography be a routine procedure for children with cryptorchism or hypospadias. J. Urol. (Baltimore), 81: 335.Google ScholarPubMed
Ferguson-Smith, M. A. (1959). Lancet, 1: 219.CrossRefGoogle Scholar
Ferrier, P. et al. (1963). XY/XO Mosaicism. Lancet, 1: 54.CrossRefGoogle Scholar
Fischer, E. (1888). Schiefhals. Handbuch der allgemeinen und speziellen Chirurgie von Pithau. Billroth.Google Scholar
Fränkel, (1921). Zur Entstehung und Behandlung des angeborenen muskulären Schiefhalses. Arch. Klin. Chir., 118.Google Scholar
Frühman, P., Sternberg, H. (1930). Untersuchungen an Kryptorchen und Hypospaden. Arch. Klin. Chir., 160: 663.Google Scholar
Fuhs, H. (1934). Med. Klin., 30: 160.Google Scholar
Furno, A. (1921). Studio di genetica e di clinica sopra cinque casi di eunucoidismo eredo-familiare. Ria. Pat. Nerv. Ment., 26: 245.Google Scholar
Furnya, T. (1963). Etiology of congenital myogenic torticollis. Exp. Path. Stud. J. Jap. Orthop. Ass., 37: 1.Google Scholar
Garb, J., Stone, M. J. (1942). Keloids: review of the literature and report of 80 cases. Amer. J. Surg., 58: 315.CrossRefGoogle Scholar
Gasner, K. (1953). Keloid. Arch. Derm. Syph. (Chicago), 68: 603.Google Scholar
Gate, J., Coste, H. (1931). Contribution ä la pathogenie des cheloides. Bull. Soc. Franc. Derm. Syph., 38: 912.Google Scholar
Gates, R. R. (1957). Human Genetics. 1946. IV Ed., The Macmillan Co., New York.Google Scholar
Garceau, G. J. (1962). Congenital muscular torticollis (hematoma, fact or myth). Rhode Island M. J., 45: 401.Google ScholarPubMed
Gedda, L. (1956). Aspetti genetici delle vaccinazioni ricercati con il metodo dei gemelli. Minerva Med., 2: 101.Google Scholar
Genrenis, C. M. (1964). Bilateral cryptorchism in a family. Med. J. Aust., 51: 1, 483.CrossRefGoogle Scholar
Geschickter, C. F., Lewis, Dean (1935). Tumors of connective tissue. Amer. J. Cancer, 25: 630.Google Scholar
Gilbert-Dreyfus, S. et al. (1957). Etude d'un cas familial d'androgynoidisme avec hypospadias grave, gynecomastie et hyperoestrogénie. Ann. Endocr. (Paris), 18: 93.Google Scholar
Glass, S. J. (1946). Bilateral cryptorchism in identical twins. J. Clin. Endocr., 6: 797.CrossRefGoogle ScholarPubMed
Godard, E. (1856). Etudes sur la monorchidie et la cryptorchidie chez 1'homme. Compt. Rend. Soc. Biol., 111.Google Scholar
Goldinova, V. (1935). Muskulärer Schiefhals. Ortop. Traumat. (USSR), 9: 5, 159.Google Scholar
Gorlin, R. J., Pindborg, J. J. (1964). Syndromes of the Head and Neck. McGraw-Hill Book Co., New York.Google Scholar
Gougerot, H. (1931). Chéloides familiales frappant les cinq filles d'une famille de six enfants. Zbl. Haut Geschl. Ar., 37: 738.Google Scholar
Graham, J. B. (1959). Hereditary chronic kidney disease. An alternative to partial sex linkage in the Utah kindred. Amer. J. Hum. Genet., 11: 333.Google ScholarPubMed
Greene, J. S. (1942). Atypical laryngeal and vocal changes in adolescence. J. Amer. Med. Ass., 120: 1193.CrossRefGoogle Scholar
Greig, D. M. (1913). Hereditary congenital Wry-neck. Brit. J. Child. Dis., 10: 387.Google Scholar
Guilleminet, M. et al. (1948). Intervention chirurgical chez deux jumeaux monozygotes pour maladie de Little (avec cryptorchidie). Lyon Chir., 43: 500.Google Scholar
Haddak, H. M., Wilkins, L. (1959). Congenital anomalies associated with gonadal aplasia. Review of 55 cases. Pediatrics, 23: 885.CrossRefGoogle Scholar
Haefen, K. V. (1935). Ein Schiefhalsstammbaum, ein Beitrag zur Ursachenlehre des Schiefhalses. Chirurg., 7: 517.Google Scholar
Hakansson, Ch., Mouritzen, C. (1963). EMG-pattern of torticollis muscularis congenita. Abstracts und Internat. EMG-Meet. (Kopenhagen), 118.Google Scholar
Hand, J. R. (1956). Undescended testes: report of 153 cases with evaluation of clinical findings, treatment and results on follow-up to 33 years. J. Urol., 75: 973.CrossRefGoogle Scholar
Hantke, (1900). Ein Beiträg zur Ätiologie des Cap. Obst. Musc. Diss., Kiel. Google Scholar
Hebra, F., (1897). Cit. Hutchinson, J. Edinburgh Med. J., 43: 5.Google Scholar
Hecker, W. et al. (1964). Beitrag zum Kryptorchismus Problem unter besonderer Berücksichtigung der Ergebnisse von Hoden biopsien. Deutsch. Med. Wschr., 89: 2177.CrossRefGoogle Scholar
Hecker, W. et al. (1965). Results of testicular biopsies in cryptorchidism concerning optimal time of treatment. Acta Endocr. (Kbh.) Suppl., 101: 15.Google Scholar
Heller, O. (1937). Uber das Syndrom Ichthyosis und Kryptorchismus. Med. Klin., 33: 271.Google Scholar
Hoffstatter, R. (1912). Über Kryptorchismus und Anomaliën des Descensus testiculi. Klin. Jb., 26: 155.Google Scholar
Hohenfeller, R., Eisenhut, L. (1964). Evaluation of fertility in cryptorchism. Internat. J. Fertil., 9: 4, 575.Google ScholarPubMed
Hough, G. de N. (1934). Congenital torticollis: review and result study. Surg. Gynec. Obstet., 58: 972.Google Scholar
Howard, R. P. et al. (1950). Testicular deficiency: a clinical and pathologic study. J. Clin. Endocr., 10: 121.CrossRefGoogle Scholar
Hulbert, K. F. (1950). Congenital torticollis. J. Bone Joint Surg., 32: 50.CrossRefGoogle Scholar
Hunziker, N. (1962). A propos de l'hyperpigmentation familiale des paupières. J. Genet. Hum., 11: 16–21.Google Scholar
Hutchinson, J. (1893). On keloids. Arch. Surg., 4: 233.Google Scholar
Isigkeit, E. (1931). Untersuchungen über Heredität orthopädischer Leiden. 3. Der angeborene Schiefhals. Arch. Orthop. Unfall Chir., 30: 459.CrossRefGoogle Scholar
Jacobson, F. (1948). The treatment of keloids at radiumhemmet. Acta Radiol. (Kbn), 29: 251.Google Scholar
Jacquemart, M., Piedallu, P. (1964). Le torticollis “congénital” est-il simplement un torticollis obstétrical. Concours Med., 86: 4867.Google ScholarPubMed
Joachimsthal, (1905). Schiefhals. Handb. Orthop. Chir., 1: 423.Google Scholar
Johnston, J. H. (1965). The undescended testis. Arch. Dis. Child., 40: 113.CrossRefGoogle ScholarPubMed
Jonge, G. A. (de) et al. (1964). Syndrome of partial abdominal muscle aplasia, cryptorchism, cysto-ure-teromegaly and other abnormalities. Maandschrift Kindergeneesk., 32: 35.Google ScholarPubMed
Judet, R. et al. (1964). Torticollis congénital. Gaz. Med. Franc., 71: 1033.Google Scholar
Kiesewetter, W. B. et al. (1955). Neonatal torticollis. J.A.M.A., 157: 1281.CrossRefGoogle ScholarPubMed
Klein, D. et al. (1963). La génétique de l'ectopie testiculaire. Path. Biol., 11: 21, 1214.Google Scholar
Klotz, H. P. et al. (1963). Les dysgénésies non “Klinefeltériennes” du tube séminifère. Path. Biol., 11: 21, 1258.Google Scholar
Konrad, E. (1924). Zur frage der Vererbung des muskulären Schiefhalses. Beitr. Klin. Chir. Tübingen, 132: 628.Google Scholar
Koonin, A. J. (1964). The aetiology of keloids: a review of the literature and a new hypothesis. S. Afr. Med. J., 38: 913.Google Scholar
Krogius, A. (1924). Zur Pathogenese des muskulären Schiefhalses. Acta Chir. Scand., 56: 497.Google Scholar
Krüger, A. (1954). Uber Keloide und ihre Behandlung unter besonderer Berücksichtigung der Strahlentherapie. Strahl. Ther., 93: 3, 426.Google Scholar
Kurtzahn, H. (1943). Operative Behandlung des Leistenhodens. Chirurg., 15: 339.Google Scholar
Lange, M. (1935). Erbbiologie des angeborenen Körperfehler. Stuttgart, Enke.Google Scholar
Laron, Z., Sevy, J. (1965). Diagnosis, treatment and follow-up of 236 cases referred as undescended testes. Acta Endocr. (Kbh), Suppl., 101: 14.Google Scholar
Laurence, G. (1954). Le torticollis congénital. Rev. Prat., 4: 2695.Google Scholar
Laurence, G. (1964). Muscular torticollis in children. Rev. Prat., 14: 669.Google ScholarPubMed
Lelong, M. et al. (1959). Les anomalies de la détermination sexuelle. A propos de 12 observations personelles. Ann. Pediat., 35: 3539.Google Scholar
Lemli, L., Smith, D. W. (1963). The XO syndrome. A study of the differential phenotype in 25 patients. J. Pediat., 63: 577.CrossRefGoogle ScholarPubMed
Lenz, W. (1964). Nephropathie mit Innenohrschwerhörigkeit. In: Human Genetik. G. Thieme Verlag, Stuttgart.Google Scholar
Lenz, W. (1964). Krankheiten des Urogenital systems. Kryptorchismus. In: Human Genetik. George Thieme Verlag, Stuttgart.Google Scholar
Lewis, J. W. et al. (1963). XY/XO mosaicism. Lancet, 1: 221.CrossRefGoogle Scholar
Loewy, E. (1924). Kongenitale Hautdefekte und Keloide bei eineiigen Zwillingen. Dermat. Wschr., 79: 1660.Google Scholar
Louste, F., Rabut, O. (1932). A propos de la fréquence des chéloïdes dans les cicatrices vaccinales. Bull. Soc. Franc. Derm. Syph., 39: 1377.Google Scholar
Lüscher, A. (1940). Über 99 Fälle von Kryptorchismus und deren Behandlung. (Kinderspital Zürich. 19281937). Thèse. Zurich.Google Scholar
Lynch, H. T. et al. (1960). Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases. Amer. J. Hum. Genet., 12: 440.Google ScholarPubMed
McKusick, V. A. (1962). A catalog of X-linked traits in man. J. Genet. Hum. (Genève), 11: 1, 51.Google ScholarPubMed
MiKulicz, J. (1895). Uber die Exstirpation des Kopfnickers bei muskulärem Schiefhals nebst Bemerkungen zur Pathogenese des Leidens. Zbl. Chir., 22: 1.Google Scholar
Möhler, D. N. (1959). Hereditary ectodermal dysplasia of the anhidrotic type associated with primary hypogonadism. Amer. J. Med., 27: 682.CrossRefGoogle ScholarPubMed
Moore, G. L. (1956). Muscular torticollis - Congenital disease or birth injury. Amer. J. Obstet. Gynec., 72: 1, 192.CrossRefGoogle ScholarPubMed
Mosely, T. M. (1962). Treatment of facial distortion due to wryneck in infants by complete resection of the sternomastoid muscle. Amer. Surg., 28: 698.Google Scholar
Nagurx, S. (1956). Zur Atiologie des angeborenen Schiefhalses. Zbl. Chir., 81: 593.Google Scholar
Nichol, K. P., Miller, A. (1965). Hereditary nephritis and deafness. Lancet., 6: 236–246.Google Scholar
Nilsson, I. M. et al. (1959). Hemophilia A in a “girl” with male sex-chromatin in pattern. Lancet., 2: 264.CrossRefGoogle Scholar
Nordlander, E. (1950). Male sterility. Acta Obstel. Gynec. Scand., (Supll.), 7: 220, 267.Google Scholar
Nunn, I. N., Stephens, F. D. (1961). The triad syndrome: a composite anomaly of the abdominal wall, urinary system and testes. J. Urol., 86: 782.CrossRefGoogle ScholarPubMed
Opitz, J. M. (1964). In discussion of Brunssting L.A. et al.: Angiokeratoma corporis diffusum. Arch. Dermat., 90: 330.Google Scholar
Opitz, J. M. et al. (1965). The genetics of angiokeratoma corporis diffusum and its linkage with the Xg locus. Amer. J. Hum. Genet., 4: 325.Google Scholar
Parhon, C. I., Simian, J. (1937). Cryptorchidie unilatérale gauche chez deux jumeaux agés de 5 ans. Bull. Soc. Roum. Neurol., 3: 44.Google Scholar
Pautrier, L. M., Woringer, F. (1931). Recherches histochimiques du calcium dans les chéloïdes. Bull. Soc. Franc. Dermat. Syphil., 38: 961.Google Scholar
Perkoff, G. T. et al. (1958). A follow-up study of hereditary chronic nephritis. Arch. Int. Med., 102: 733.CrossRefGoogle ScholarPubMed
Peters, J. H. et al. (1955). Familial gynecomastia associated with genital abnormalities: report of a family. J. Clin. Endocr., 15: 182.CrossRefGoogle ScholarPubMed
Petersen, (1884). Caput obstipum. Arch. Klin. Chir., 30.Google Scholar
Pfändler, V. (1952). L'ontogénie et l'hérédité du caput obstipum (torticollis congénital). J. Genet. Hum., 1: 169.Google Scholar
Pfeiffer, (1900). Zur Atiologie und Therapie des Caput obstipum musc. Dissertation. Berlin.Google Scholar
Pfister, A. (1934). Beobachtungen an eineiïgen Zwillingspaaren. Arch. Klaus-Stift Vererb. Forsch., 12: 587.Google Scholar
Pineyro, J. et al. (1960). Congenital torticollis: a study of one hundred and forty-seven cases. J. Int. Coll. Surg., 34: 495.Google ScholarPubMed
Piovesana, L. (1959). Considerazioni sull'etiopatogenesi e sul trattamento del torcicollo miogeno. Acta Chir. Ital., 2: 223.Google Scholar
Pitzer, P. (1954). Leit symptom: Schiefhals. Munch. Med. Wschr., 96: 1183.Google Scholar
Pooth, (1938). Cit. Becker.Google Scholar
Rahman, A. N. et al. (1961). Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). Tr. A. Am. Physicians., 74: 366.Google ScholarPubMed
Rasch, H. G. (1931). Multiple hereditäre Keloïde. Zbl. Haut. Geschl. Kr., 37: 740.Google Scholar
Reifenstein, E. C. Jr. (1947). Hereditary familial hypogonadism (Abstract). Proc. Amer. Fed. Clin. Res., 3: 86.Google Scholar
Rhodes, C. B. (1911). Undescended testicle with a report of 3 cases in one family. Amer. J. Surg., 25: 289.Google Scholar
Roberts, J. A. F. (1960). An introduction to medical genetics. 2nd Ed., Oxford Univ. Press, London.Google Scholar
Röpke, (1893). Cap. Obst. Dissertation, Göttingen.Google Scholar
Rössle, R. (1940). Die pathologische Anatomie der Familie. Springer, Berlin.CrossRefGoogle Scholar
Rössler, H. J. (1960). Ein Beitrag zum familiären Vorkommen von Lage anomaliën der Hoden und maligner Enthärtung. Zbl. Chir., 85: 2160.Google Scholar
Royer, P. (1962). The Lowe syndrome. In Linneweh, F.: Erbliche Stoffwechselkrankheiten. Urban and Schwarzenberg, München Berlin.Google Scholar
Russell, E. P., Smith, N. J. (1959). Hereditary hematuria. A.M.A.J. Dis. Child., 98: 353.Google ScholarPubMed
Sainton, P. (1902). Un cas d'eunuchoïdisme familial. Nouv. Iconogr. Salpet., 15: 272.Google Scholar
Salm, R., Adlington, S. R. (1962). Seminoma in identical twins. Brit. Med. J., 2: 964.CrossRefGoogle ScholarPubMed
Schloessmann, (1910). Die Entstehung des angeborenen muskulären Schiefhalses. Bruns'Beitr. Klin. Chir., 71.Google Scholar
Schmidd, (1936). Cit. Becker.Google Scholar
Schubert, (1921). Die Ursache der angeborenen Schiefhalserkrankung. Deutsch. Z. Chir., 167.CrossRefGoogle Scholar
Shaw, R. F., Slover, R. A. (1961). Abnormal segregation in hereditary renal disease with deafness. Amer. J. Hum. Gen., 13: 89.Google ScholarPubMed
Schramek, M. (1910). Arch. Dermal., 99: 207.CrossRefGoogle Scholar
Siemens, H. W. (1929). Vererbungspathologie, In: Hdb Haut-Geschlechtskrankheiten. Hsg. Jodassohn J. Springer, Berlin.Google Scholar
Sippel, (1920). Der angeborene muskuläre Schiefbals. Deutsch. Z. Chir., 155.CrossRefGoogle Scholar
Sniffen, R. C. et al. (1950–1954). The testis. II. Abnormalities of spermatogenesis. A.M.A. Arch. Path., 3: 50, 285.Google Scholar
Sniffen, R. C. et al. (1951). The testis. III. Absence of germ cells, sclerosing tubular degeneration, male climacteric. A.M.A. Arch. Path., 51: 293.Google ScholarPubMed
Sohval, A. R., Soffer, L. J. (1953). Congenital familial testicular deficiency. Amer. J. Med., 14: 328.CrossRefGoogle ScholarPubMed
Sohval, A. R. (1954). Histopathology of cryptorchidism: study based upon comparative histology of retained and scrotal testes from birth to maturity. Amer. J. Med., 16: 347.CrossRefGoogle ScholarPubMed
Sohval, A. R. (1954). Testicular dysgenesis as an etiological factor in cryptorchism. J. Urol. (Baltimore), 72: 693.Google Scholar
Stauber, R. (1965). Familiäres Vorkommen von Dystropia testis transversa. Zbl. Chir., 90: 621.Google Scholar
Stevens, A. E. (1948). Congenital torticollis in identical twins. Lancet, 2: 378.CrossRefGoogle ScholarPubMed
Stewart, J. S. S. (1959). Testicular féminisation and colour-blindness. Lancet, 2: 592.CrossRefGoogle ScholarPubMed
Storck, H. (1938). Z. Orthop., 68, 3: 308.Google Scholar
Strand, S. (1945). Acta Radiol., 26: 397.CrossRefGoogle Scholar
Stromeyer, L. (1938). Beiträge zur operativen Orthopädik. Hannover.Google Scholar
Swyer, G. I. M. (1954). Discussion on male hypogonadism. Proc. Roy. Soc. Med., 436.Google Scholar
Taylor, Fr. (1875). Induration of the sternomastoid muscle. Trans. Path. Soc. (London), 26: 224.Google Scholar
Thibault, de M. (1964). Les chéloïdes et leur traitement. Acta Chir. Belg., 63: 2, 141.Google Scholar
Tiliakos, A. et al. (1964). Syndrome d'Alpert ou néphrite héréditaire avec surdité. Presse Méd., 72: 26, 1567.Google Scholar
Tönnis, D. (1964). Elektromyographische und histologische Untersuchungen zur Frage der Entstehung des muskulären Schiefhalser und des angeborenen Schulterblatt hochstandes. Arch. Orthop. Unfallchir., 56: 435.CrossRefGoogle Scholar
Touraine, A., Ruel, H: (1945). Ann. Derm. Syph., 5: 1–2, 1.Google Scholar
Touraine, A. (1955). L'Hérédité en Médecine. Masson, Paris.Google Scholar
Turpin, P. et al. (1939–1940). Les chondro-épiphysites des jumeaux. Rev. Franc. Ped., 15: 492.Google Scholar
Twardosz, W. et al. (1963). Diseases associated with undescended testes. Polski Przeglad Chirurgiczny, 35: 477.Google Scholar
Twiesselmann, F. et al. (1965). Bilan des maladies et infirmités décelées dans les classes de milice 1953-1960 en Belgique. Popul. Fam., 5.Google Scholar
Valentin, (1932). Cit. Bauer and Bode.Google Scholar
Van Den Brenk, H. A. S., Minty, C. C. J. (1960). Radiation in the management of keloids and hypertrophic scars. Brit. J. Surg., 47: 595.CrossRefGoogle ScholarPubMed
Verschuer von, O. (1934). Erbpathologie. Dresden.Google Scholar
Verschuer von, O. (1962). Die mutationsrate beim Menschen. IV. Die Häufigkeit krankhafster Erbmerkmale im Bezirk Münster. Z. Menschl. Vererb. Konstit., 36: 383.Google Scholar
Vogel, F., Dorn, H. (1964). Krankheiten der Haut und ihrer Anhanggebilde. Keloide. In: Humangenetik. S. Thieme Verlag, Stuttgart.Google Scholar
Van Wyck, J. A. M. et al. (1962). Anomalies in the Y chromosome. Lancet, 1: 218.CrossRefGoogle Scholar
Wallace, R. D., Cooper, W. J. (1965). Angiokeratoma corporis diffusum universale (Fabry). Amer. J. Med., 19/4: 656.CrossRefGoogle Scholar
Wangensteen, O. H. (1927). The undescended testicle. Arch. Surg. (Chicago), 14: 663.CrossRefGoogle Scholar
Werner, B. (1929). Verzögerung des Hodendescensus und Leistenbruch bei eineiigen Zwillingen. Deutsch. Med. Wschr., 55: 1043.Google Scholar
Widal, F. et al. (1926). Chéloïdes spontanées familiales survenues chez deux basedowiennes. Bull. Mem. Soc. Med. Hôp. (Paris), 50: 1273.Google Scholar
Wightman, J. A. K. (1963). Genito-urinary aspects of Marfan syndrome, with case report. Brit. J. Urol., 25: 2, 143.CrossRefGoogle Scholar
Wiles, P. (1934). Family tree, showing hereditary undescended right testicle and associated deformities. Proc. Roy. Soc. Med., 28: 157.CrossRefGoogle ScholarPubMed
Wise, D. et al. (1962). Angiokeratoma corporis diffusum: a clinical study of 8 affected families. Quart. J. Med., 31: 177.Google Scholar
Wolf, M. (1936). Keloid; familial occurences. Wien. Med. Wschr., 86: 722.Google Scholar
Wolf, M. (1956). Uber familiäre Keloidbildung. Wien Med. Wschr., 106: 722.Google Scholar
Young, H. H. (1937). Genital Abnormalities, Hermaphroditism and Related Adrenal Disorders. Williams and Wilkins Co., Baltimore.Google Scholar
Zehnder, (1886). Über den muskulären Schiefhals. Dissertation. Berlin.Google Scholar
Zumbusch von, L. (1907). Arch. Dermat., 87: 426.Google Scholar