Skip to main content

Cleft Palate, with a Peculiar Limb Deformity

  • Chapter
  • First Online:
Challenging Cases in Dermatology
  • 327 Accesses

Abstract

A 40-year-old male presented with:

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 329.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Bibliography

  • Arbesfeld D, Thomas I, Janniger CK, Desposito F, Lambert WC, Schwartz RA. Ectrodactyly, ectodermal dysplasia, cleft palate syndrome: report of a case with generalized telangiectasias. J Am Acad Dermatol. 1993;29:347–50.

    Article  PubMed  CAS  Google Scholar 

  • Balci S, Engiz O, Okten G, Sipahier M, Gursu G, Kandemir B. A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108(3):e91–5.

    Article  PubMed  Google Scholar 

  • Batra P, Duggal R, Parkash H. EEC syndrome: a case report. J Indian Pedo Prev Dent. 2003;21:75–8.

    CAS  Google Scholar 

  • Bixler D, Spivack J, Bennett J, et al. The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet. 1972;3:43–5.

    Article  PubMed  CAS  Google Scholar 

  • Celli J, Duijf P, Hamel BC, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999;99:143–53.

    Article  PubMed  CAS  Google Scholar 

  • Christodoulou J, McDougall PN, Sheffield LJ. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. J Med Genet. 1989;26:586–9.

    Article  PubMed  CAS  Google Scholar 

  • Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 2010;162(1):201–7.

    Article  PubMed  CAS  Google Scholar 

  • Cockayne EA. Cleft palate-lip, hare lip, dacryocystitis, and cleft hand and foot. Biometrika. 1936;28:60–3.

    Google Scholar 

  • Dalben GS, Cursino HA, Barbosa BA, Costa B, Consolaro A. White sponge nevus in a patient with EEC syndrome. Dermatol Online J. 2010;16(5):7.

    PubMed  Google Scholar 

  • Fosko SW, Stenn KS, Bolognia JL. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol. 1992;27:249–56.

    Article  PubMed  CAS  Google Scholar 

  • Janssens S, Defoort P, Vandenbroecke C, Scheffer H, Mortier G. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). Genet Couns. 2008;19(4):433–7.

    PubMed  CAS  Google Scholar 

  • Kalla G, Anush G. Ectrodactyly. Indian J Dermatol Venerol Leprol. 2002;68:152–3.

    CAS  Google Scholar 

  • McNab AA, Potts MJ, Welham RA. The EEC syndrome and its ocular manifestations. Br J Ophthalmol. 1989;73:261–4.

    Article  PubMed  CAS  Google Scholar 

  • Nardi AC, Ferreira U, Netto Junior NR, et al. Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. Am J Med Genet. 1992;44:803–6.

    Article  PubMed  CAS  Google Scholar 

  • Ota Y, Matsumoto Y, Dogru M, Goto E, Uchino Y, Endo K, Tsubota K. Management of evaporative dry eye in ectrodactyly-ectodermal dysplasia-clefting syndrome. Optom Vis Sci. 2008;85(9):E795–801.

    Article  PubMed  Google Scholar 

  • Pinheiro M, Freire-Maia N. EEC and odontotrichomelic syndromes. Clin Genet. 1980;17(5):363–4.

    Article  PubMed  CAS  Google Scholar 

  • Rodini ES, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet. 1990;37:42–53.

    Article  PubMed  CAS  Google Scholar 

  • Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol. 1996;5:115–27.

    Article  PubMed  CAS  Google Scholar 

  • Rollnick BR, Hoo JJ. Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet. 1988;29:131–6.

    Article  PubMed  CAS  Google Scholar 

  • Rosenmann A, Shapira T, Cohen MM. Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. Clin Genet. 1976;9:347–53.

    Article  PubMed  CAS  Google Scholar 

  • Rudiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate-the EEC syndrome. Am J Dis Child. 1970;120:160–3.

    PubMed  CAS  Google Scholar 

  • Shawky RM, Elsayed SM, Sadik DI, Gad S, Seifeldin NS. Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. Genet Couns. 2010;21(2):215–20.

    PubMed  CAS  Google Scholar 

  • Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Clin Exp Dermatol. 2009;34(8):e726–8.

    Article  PubMed  CAS  Google Scholar 

  • Spiegel J, Cotton A. AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. J Am Acad Dermatol. 1985;12:810–5.

    Article  PubMed  CAS  Google Scholar 

  • Sybert VP. Ectodermal dysplasias. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, editors. Fitzpatrick’s dermatology in general medicine. 6th ed. New York: McGraw-Hill; 2003. p. 515–22.

    Google Scholar 

  • Thami GP, Kaur S. Split hand-foot malformation: a congenital central limb ray deficiency. Indian J Pediatr. 1983;50:337–40.

    Article  Google Scholar 

  • Trope BM, Salomão JN, Costa VD, Verde RB, Barros DS. Do you know this syndrome? ectrodactyly – ectodermal dysplasia – cleft lip/palate(EEC) syndrome. An Bras Dermatol. 2010;85(4):573–5.

    Article  PubMed  Google Scholar 

  • van Bokhoven H, Hamel BC, Bamshad M, et al. p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001;69:481–92.

    Article  PubMed  CAS  Google Scholar 

  • Wojcicki P, Wysocki M, Wojcicka K. Ectrodactyly-ectodermal dysplasia-clefting syndrome-plastic surgeon’s considerations. J Craniofac Surg. 2010;21(5):1388–92.

    Article  PubMed  Google Scholar 

  • Zonana J. Ectodermal dysplasias. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Principles and practice of medical genetics. New York: Churchill Livingstone; 1996. p. 1279–91.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag London

About this chapter

Cite this chapter

El-Darouti, M.A. (2013). Cleft Palate, with a Peculiar Limb Deformity. In: Challenging Cases in Dermatology. Springer, London. https://doi.org/10.1007/978-1-4471-4249-2_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-4249-2_3

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-4248-5

  • Online ISBN: 978-1-4471-4249-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics