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Extensive Genitourinary Anomalies Associated With Klippel-Feil Syndrome FREE

Robert S. Mecklenburg, MD; Philip M. Krueger, MD
[+] Author Affiliations

Received for publication Sept 24, 1973; accepted Dec 1.

Reprint requests to Reproduction Research Branch, National Institute of Child Health, National Institutes of Health, Bethesda, MD 20014 (Dr. Krueger).


Am J Dis Child. 1974;128(1):92-93. doi:10.1001/archpedi.1974.02110260094019.
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Extensive genitourinary anomalies have not been well established as an associated finding in patients with the Klippel-Feil syndrome. A 15-year-old girl with this syndrome was discovered to have major genitourinary malformations, including an imperforate hymen and atretic lower vagina as well as absence of the uterus and all but a small remnant of the fallopian tubes. No left ovary was found by direct inspection, and an intravenous pyelogram disclosed nonvisualization of the left kidney. The association of extensive genitourinary abnormalities with the Klippel-Feil syndrome is supported by this and two recently reported similar cases.

REFERENCES

Klippel M, Feil A:  Anomalies de la colonne vertebrate par absence des vertebres cervicales: Cage thoracique remontant jusqu'a la base du crane . Bull Mem Soc Anat Paris 87:185-188, 1912;.
Gray SW, Romaine CB, Skandalakis JE:  Congenital fusion of the cervical vertebrae . Surg Gynecol Obstet 118:373-385, 1964;.
Vitko RJ, Cass AS, Winter RB:  Anomalies of the genitourinary tract associated with congenital scoliosis and congenital kyphosis . J Urol 108:655-659, 1972;.
Oden C:  Three cases of anomaly of the bodies of the vertebrae in the cervical region . Acta Radiol [Diagn] (Stockh) 15:69-82, 1934;.
Link to Article
Rinvik R:  A case of the Klippel-Feil syndrome (congenital synostosis of the cervical vertebrae) . Acta Paediatr Scand 31:417-427, 1944;.
Link to Article
Gilmour JR:  The essential identity of the Klippel-Feil syndrome and iniencephaly . J Pathol Bacteriol 53:117-131, 1941;.
Link to Article
Ramsey J, Bliznak J:  Klippel-Feil syndrome with renal agenesis and other anomalies . Am J Roentgenol Radium Ther Nucl Med 113:460-463, 1971;.
Link to Article
Soffer LJ, et al:  Diseases of the testis , in Soffer LJ: Diseases of the Endocrine Glands , ed 2. Philadelphia, Lea & Febiger, 1956;.
Bizarro AH:  Brevicollis . Lancet 2:828-829, 1938;.
Link to Article
Cohney BC:  The association of cleft palate with the Klippel-Feil syndrome . Plast Reconstr Surg 31:179-187, 1963;.
Link to Article
Wilkins L, Fleischman W:  Ovarian agenesis . J Clin Endocrinol 4:357-375, 1944;.
Link to Article
Haddad HM, Wilkins L:  Congenital anomalies associated with gonadal aplasia . Pediatrics 23:885-902, 1959;.
Luftman II, Weintraub S:  Klippel-Feil syndrome in a full-term stillborn infant . NY State J Med 51:2035-2038. 1951;.
Martin CA:  Pterygium coli chez un garçon, avec syndromes de Turner et de Klippel-Feil associes . Laval Med 12:461-475, 1947;.
Schulman CC, Mendlewicz J:  Turner phenotype with pelvic kidney and other unusual abnormalities . JAMA 213:1689, 1970;.
Link to Article
Arey LB:  The urinary system , in Arey LB: Developmental Anatomy , ed 7. Philadelphia, WB Saunders Co, 1965;, pp 296; 299.
Gray H:  The urogenital system , in Goss CM (ed): Anatomy of the Human Body , ed 100. Philadelphia, Lea & Febiger, 1965;, p 1316.
Brewer JI, DeCosta EJ:  Congenital anomalies , in Brewer JI, DeCosta EJ: Textbook of Gynecology , ed 4. Baltimore, Williams & Wilkins Co, 1967;, p 244.

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References

Klippel M, Feil A:  Anomalies de la colonne vertebrate par absence des vertebres cervicales: Cage thoracique remontant jusqu'a la base du crane . Bull Mem Soc Anat Paris 87:185-188, 1912;.
Gray SW, Romaine CB, Skandalakis JE:  Congenital fusion of the cervical vertebrae . Surg Gynecol Obstet 118:373-385, 1964;.
Vitko RJ, Cass AS, Winter RB:  Anomalies of the genitourinary tract associated with congenital scoliosis and congenital kyphosis . J Urol 108:655-659, 1972;.
Oden C:  Three cases of anomaly of the bodies of the vertebrae in the cervical region . Acta Radiol [Diagn] (Stockh) 15:69-82, 1934;.
Link to Article
Rinvik R:  A case of the Klippel-Feil syndrome (congenital synostosis of the cervical vertebrae) . Acta Paediatr Scand 31:417-427, 1944;.
Link to Article
Gilmour JR:  The essential identity of the Klippel-Feil syndrome and iniencephaly . J Pathol Bacteriol 53:117-131, 1941;.
Link to Article
Ramsey J, Bliznak J:  Klippel-Feil syndrome with renal agenesis and other anomalies . Am J Roentgenol Radium Ther Nucl Med 113:460-463, 1971;.
Link to Article
Soffer LJ, et al:  Diseases of the testis , in Soffer LJ: Diseases of the Endocrine Glands , ed 2. Philadelphia, Lea & Febiger, 1956;.
Bizarro AH:  Brevicollis . Lancet 2:828-829, 1938;.
Link to Article
Cohney BC:  The association of cleft palate with the Klippel-Feil syndrome . Plast Reconstr Surg 31:179-187, 1963;.
Link to Article
Wilkins L, Fleischman W:  Ovarian agenesis . J Clin Endocrinol 4:357-375, 1944;.
Link to Article
Haddad HM, Wilkins L:  Congenital anomalies associated with gonadal aplasia . Pediatrics 23:885-902, 1959;.
Luftman II, Weintraub S:  Klippel-Feil syndrome in a full-term stillborn infant . NY State J Med 51:2035-2038. 1951;.
Martin CA:  Pterygium coli chez un garçon, avec syndromes de Turner et de Klippel-Feil associes . Laval Med 12:461-475, 1947;.
Schulman CC, Mendlewicz J:  Turner phenotype with pelvic kidney and other unusual abnormalities . JAMA 213:1689, 1970;.
Link to Article
Arey LB:  The urinary system , in Arey LB: Developmental Anatomy , ed 7. Philadelphia, WB Saunders Co, 1965;, pp 296; 299.
Gray H:  The urogenital system , in Goss CM (ed): Anatomy of the Human Body , ed 100. Philadelphia, Lea & Febiger, 1965;, p 1316.
Brewer JI, DeCosta EJ:  Congenital anomalies , in Brewer JI, DeCosta EJ: Textbook of Gynecology , ed 4. Baltimore, Williams & Wilkins Co, 1967;, p 244.

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