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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Aug;30(8):700–703. doi: 10.1136/jmg.30.8.700

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

D Lacombe 1, F Serville 1, D Marchand 1, J Battin 1
PMCID: PMC1016505  PMID: 8411061

Abstract

A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

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Selected References

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  1. Bamforth J. S., Kaurah P. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Am J Med Genet. 1992 Aug 1;43(6):932–937. doi: 10.1002/ajmg.1320430605. [DOI] [PubMed] [Google Scholar]
  2. Chranowska K. H., Krajewska-Walasek M., Rump Z., Wisniewski L., Fryns J. P. Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome. Genet Couns. 1990;1(1):67–73. [PubMed] [Google Scholar]
  3. Hennekam R. C. LADD syndrome: a distinct entity? Eur J Pediatr. 1987 Jan;146(1):94–95. doi: 10.1007/BF00647303. [DOI] [PubMed] [Google Scholar]
  4. Hollister D. W., Klein S. H., De Jager H. J., Lachman R. S., Rimoin D. L. The lacrimo-auriculo-dento-digital syndrome. J Pediatr. 1973 Sep;83(3):438–444. doi: 10.1016/s0022-3476(73)80268-9. [DOI] [PubMed] [Google Scholar]
  5. Küster W., Majewski F., Meinecke P. EEC syndrome without ectrodactyly? Report of 8 cases. Clin Genet. 1985 Aug;28(2):130–135. doi: 10.1111/j.1399-0004.1985.tb00372.x. [DOI] [PubMed] [Google Scholar]
  6. Preus M., Fraser F. C. The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. Clin Genet. 1973;4(5):369–375. doi: 10.1111/j.1399-0004.1973.tb01162.x. [DOI] [PubMed] [Google Scholar]
  7. Qumsiyeh M. B. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet. 1992 Aug;42(2):101–101. doi: 10.1111/j.1399-0004.1992.tb03149.x. [DOI] [PubMed] [Google Scholar]
  8. Rivera H., Sanchez-Corona J., Burgos-Fuentes V. R., Melendez-Ruiz M. J. Deletion of 7q22 and ectrodactyly. Genet Couns. 1991;2(1):27–31. [PubMed] [Google Scholar]
  9. Roberts S. H., Hughes H. E., Davies S. J., Meredith A. L. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J Med Genet. 1991 Jul;28(7):479–481. doi: 10.1136/jmg.28.7.479. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Robinson G. C., Wildervanck L. S., Chiang T. P. Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss. J Pediatr. 1973 Jan;82(1):107–109. doi: 10.1016/s0022-3476(73)80025-3. [DOI] [PubMed] [Google Scholar]
  11. Thompson E., Pembrey M., Graham J. M. Phenotypic variation in LADD syndrome. J Med Genet. 1985 Oct;22(5):382–385. doi: 10.1136/jmg.22.5.382. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Wiedemann H. R., Drescher J. LADD syndrome: report of new cases and review of the clinical spectrum. Eur J Pediatr. 1986 Apr;144(6):579–582. doi: 10.1007/BF00496040. [DOI] [PubMed] [Google Scholar]

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