Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1982 Oct;19(5):332–336. doi: 10.1136/jmg.19.5.332

Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

I D Young 1,2, W G Macrae 1,2, H E Hughes 1,2, J S Crawford 1,2
PMCID: PMC1048916  PMID: 7143385

Abstract

This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance.

Full text

PDF
332

Images in this article

332Image
on p.332
333Image
on p.333
333Image
on p.333
333Image
on p.333
334Image
on p.334
334Image
on p.334
335Image
on p.335
335Image
on p.335

Selected References

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

  1. Balci S., Say B., Firat T. Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia. Clin Genet. 1974 Jan;5(1):36–39. doi: 10.1111/j.1399-0004.1974.tb01656.x. [DOI] [PubMed] [Google Scholar]
  2. Charan H. Keratoconus posticus circumscriptus with indentation of the lens. Br J Ophthalmol. 1967 Jul;51(7):486–488. doi: 10.1136/bjo.51.7.486. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cross H. E., McKusick V. A., Breen W. A new oculocerebral syndrome with hypopigmentation. J Pediatr. 1967 Mar;70(3):398–406. doi: 10.1016/s0022-3476(67)80137-9. [DOI] [PubMed] [Google Scholar]
  4. Cross H. E. Penetrance and variability in anterior chamber malformations. Birth Defects Orig Artic Ser. 1979;15(5B):131–144. [PubMed] [Google Scholar]
  5. 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]
  6. Fryns J. P., Van den Berghe H. Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome? Eur J Pediatr. 1979 Jun 28;131(3):179–183. doi: 10.1007/BF00538941. [DOI] [PubMed] [Google Scholar]
  7. HAGEDOORN A., VELZEBOER C. M. Postnatal partial spontaneous correction of a severe congenital anomaly of the anterior segment of an eye. Arch Ophthalmol. 1959 Oct;62:685–693. doi: 10.1001/archopht.1959.04220040147021. [DOI] [PubMed] [Google Scholar]
  8. HANEY W. P., FALLS H. F. The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. Am J Ophthalmol. 1961 Jul;52:53–57. doi: 10.1016/0002-9394(61)90451-2. [DOI] [PubMed] [Google Scholar]
  9. Ide C. H., Matta C., Holt J. E., Felker G. V. Dysgenesis mesodermalis of the cornea (Peters' anomaly) associated with cleft lip and palate. Ann Ophthalmol. 1975 Jun;7(6):841–842. [PubMed] [Google Scholar]
  10. JACOBS H. B. Posterior conical cornea. Br J Ophthalmol. 1957 Jan;41(1):31–39. doi: 10.1136/bjo.41.1.31. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Krachmer J. H., Rodrigues M. M. Posterior keratoconus. Arch Ophthalmol. 1978 Oct;96(10):1867–1873. doi: 10.1001/archopht.1978.03910060371016. [DOI] [PubMed] [Google Scholar]
  12. Mietens C., Weber H. A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation. J Pediatr. 1966 Oct;69(4):624–629. doi: 10.1016/s0022-3476(66)80050-1. [DOI] [PubMed] [Google Scholar]
  13. PINSKY L., DIGEORGE A. M., HARLEY R. D., BAIRD H. W., 3rd MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME. J Pediatr. 1965 Sep;67:387–398. doi: 10.1016/s0022-3476(65)80399-7. [DOI] [PubMed] [Google Scholar]
  14. Pagon R. A., Chandler J. W., Collie W. R., Clarren S. K., Moon J., Minkin S. A., Hall J. G. Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. Birth Defects Orig Artic Ser. 1978;14(6B):233–241. [PubMed] [Google Scholar]
  15. Ruprecht K. W., Majewski F. Familiäre Arhinie mit Petersscher Anomalie und Kiefermissbildungen, ein neues Fehlbildungssyndrom? Klin Monbl Augenheilkd. 1978 May;172(5):708–715. [PubMed] [Google Scholar]
  16. Townsend W. M. Congenital corneal leukomas. 1. Central defect in Descemet's membrane. Am J Ophthalmol. 1974 Jan;77(1):80–86. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES