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Frank -Ter Haar Syndrome in a Newborn

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Abstract

Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition.

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References

  1. Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RCM. Further delineation of Frank-ter Haar syndrome. Am J Med Genet. 2004;131:127–33.

    Article  PubMed  Google Scholar 

  2. Ter Haar B, Hamel B, Hendriks J, de Jager J. Melnick- Needles Syndrome: indication for an autosomal recessive form. Am J Med Genet. 1982;13:469–77.

    Article  PubMed  Google Scholar 

  3. Hamel BCJ, Draaisma JMT, Pinckers AJLG, et al. Autosomal recessive Melnick- needles syndrome or Ter- Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet. 1995;56:312–16.

    Article  PubMed  CAS  Google Scholar 

  4. Gorlin RJ, Knier J. Letter to the editor: X-linked or Autosomal Dominant lethal in the male, inheritance of the Melnick-Needles(osteodysplasty) syndrome? A reappraisal. Am J Med Genet. 1982;13:465–67.

    Article  PubMed  CAS  Google Scholar 

  5. Horton WA, Hecht JT. The Skeletal dysplasias. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson textbook of pediatrics. 18th ed. Philadelphia: Elsevier; 2007. p. 2869–87.

    Google Scholar 

  6. Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skelatal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008;28:1061–77.

    Article  PubMed  Google Scholar 

  7. Krajewska-Walasek M, Winkielman J, Gorlin RJ. Melnick-Needles syndrome in males. Am J Med Genet. 1987;27:153–58.

    Article  PubMed  CAS  Google Scholar 

  8. Megarbane A, Tomey K, Wakim G. Congenital Glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet. 1997;73:67–71.

    Article  PubMed  CAS  Google Scholar 

  9. Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y. Frank- ter Haar Syndrome with unusual clinical features. Eur J Med Genet. 2009;52:247–49.

    Article  PubMed  Google Scholar 

  10. Iqbal Z, Cejudo MP, de Brouwer A, et al. Disruption of the podosome adaptor protein Tks4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010;86:254–61.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to B. Vishnu Bhat.

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Femitha, P., Joy, R., Gane, B.D. et al. Frank -Ter Haar Syndrome in a Newborn. Indian J Pediatr 79, 1091–1093 (2012). https://doi.org/10.1007/s12098-011-0599-2

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  • DOI: https://doi.org/10.1007/s12098-011-0599-2

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