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. 1986 Feb;23(1):64–71. doi: 10.1136/jmg.23.1.64

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

D Donnai, I D Young, W G Owen, S A Clark, P F Miller, W F Knox
PMCID: PMC1049544  PMID: 3950937

Abstract

Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Antley R. M., Hwang D. S., Theopold W., Gorlin R. J., Steeper T., Pitt D., Danks D. M., McPherson E., Bartels H., Wiedemann H. R. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet. 1981;9(2):147–163. doi: 10.1002/ajmg.1320090209. [DOI] [PubMed] [Google Scholar]
  2. Fryns J. P., Moerman F., Goddeeris P., Bossuyt C., Van den Berghe H. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet. 1979;50(1):65–70. doi: 10.1007/BF00295591. [DOI] [PubMed] [Google Scholar]
  3. Greene C., Pitts W., Rosenfeld R., Luzzatti L. Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. Clin Genet. 1984 Apr;25(4):366–372. doi: 10.1111/j.1399-0004.1984.tb02006.x. [DOI] [PubMed] [Google Scholar]
  4. Hall J. G., Pallister P. D., Clarren S. K., Beckwith J. B., Wiglesworth F. W., Fraser F. C., Cho S., Benke P. J., Reed S. D. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet. 1980;7(1):47–74. doi: 10.1002/ajmg.1320070110. [DOI] [PubMed] [Google Scholar]
  5. IVEMARK B. I. Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. Acta Paediatr Suppl. 1955 Nov;44(Suppl 104):7–110. [PubMed] [Google Scholar]
  6. Kohler H. G. Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet. 1983 Mar;14(3):423–428. doi: 10.1002/ajmg.1320140304. [DOI] [PubMed] [Google Scholar]
  7. Lipson A., Hayes A. Smith-Lemli-Opitz syndrome and Hirschsprung disease. J Pediatr. 1984 Jul;105(1):177–177. doi: 10.1016/s0022-3476(84)80406-0. [DOI] [PubMed] [Google Scholar]
  8. Lowry R. B. Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. Am J Med Genet. 1983 Mar;14(3):429–433. doi: 10.1002/ajmg.1320140305. [DOI] [PubMed] [Google Scholar]
  9. Lowry R. B., Miller J. R., MacLean J. R. Micrognathia, polydactyly, and cleft palate. J Pediatr. 1968 Jun;72(6):859–861. doi: 10.1016/s0022-3476(68)80441-x. [DOI] [PubMed] [Google Scholar]
  10. Patterson K., Toomey K. E., Chandra R. S. Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr. 1983 Sep;103(3):425–427. doi: 10.1016/s0022-3476(83)80422-3. [DOI] [PubMed] [Google Scholar]
  11. Pena S. D., Shokeir M. H. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin Genet. 1974;5(4):285–293. doi: 10.1111/j.1399-0004.1974.tb01695.x. [DOI] [PubMed] [Google Scholar]
  12. Pena S. D., Shokeir M. H. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediatr. 1974 Sep;85(3):373–375. doi: 10.1016/s0022-3476(74)80119-8. [DOI] [PubMed] [Google Scholar]
  13. Rutledge J. C., Friedman J. M., Harrod M. J., Currarino G., Wright C. G., Pinckney L., Chen H. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet. 1984 Oct;19(2):255–264. doi: 10.1002/ajmg.1320190208. [DOI] [PubMed] [Google Scholar]
  14. Salonen R., Herva R., Norio R. The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet. 1981 May;19(5):321–330. doi: 10.1111/j.1399-0004.1981.tb00718.x. [DOI] [PubMed] [Google Scholar]
  15. Toriello H. V., Bauserman S. C., Higgins J. V. Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? Am J Med Genet. 1985 Jun;21(2):271–277. doi: 10.1002/ajmg.1320210208. [DOI] [PubMed] [Google Scholar]
  16. Winter R. M., Baraitser M., Douglas J. M. A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet. 1984 Apr;21(2):121–123. doi: 10.1136/jmg.21.2.121. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Zizka J., Maresová J., Kerekes Z., Nozicka Z., Jüttnerová V., Balícek P. Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. Acta Paediatr Scand. 1983 Jan;72(1):141–143. doi: 10.1111/j.1651-2227.1983.tb09683.x. [DOI] [PubMed] [Google Scholar]

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