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J Med Genet. 1991 February; 28(2): 131–134.
PMCID: PMC1016784

The Ohdo blepharophimosis syndrome: a third case.

Abstract

A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.

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Selected References

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  • Ohdo S, Madokoro H, Sonoda T, Hayakawa K. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet. 1986 Jun;23(3):242–244. [PMC free article] [PubMed]
  • Winter RM. Dubowitz syndrome. J Med Genet. 1986 Feb;23(1):11–13. [PMC free article] [PubMed]
  • Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet. 1988 Jan;25(1):47–51. [PMC free article] [PubMed]
  • Pena SD, Shokeir MH. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin Genet. 1974;5(4):285–293. [PubMed]
  • Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D. Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser. 1975;11(5):161–168. [PubMed]
  • Edwards WC, Root AW. Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. Am J Med Genet. 1982 Sep;13(1):51–56. [PubMed]
  • Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979 Sep;95(3):395–398. [PubMed]
  • Tsukahara M, Azuno Y, Kajii T. Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation. Am J Med Genet. 1989 May;33(1):7–9. [PubMed]
  • Clarren SK, Smith DW. The fetal alcohol syndrome. N Engl J Med. 1978 May 11;298(19):1063–1067. [PubMed]
  • Mutchinick O. A syndrome of mental and physical etardation, speech disorders, and peculiar facies in two sisters. J Med Genet. 1972 Mar;9(1):60–63. [PMC free article] [PubMed]
  • Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes. Am J Med Genet. 1978;2(2):145–152. [PubMed]
  • Gossage D, Perrin JM, Butler MG. A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Am J Med Genet. 1987 Apr;26(4):915–919. [PubMed]

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