Literature DB >> 22037860

Frank-Ter Haar syndrome in a newborn.

P Femitha1, Rojo Joy, Bahubali D Gane, B Adhisivam, B Vishnu Bhat.   

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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Year:  2011        PMID： 22037860     DOI： 10.1007/s12098-011-0599-2

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

Review 1.  Further delineation of Frank-ter Haar syndrome.

Authors:  Saskia M Maas; Hulya Kayserili; Jan Lam; Memnune Y Apak; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2004-12-01       Impact factor: 2.802

2.  Melnick-Needles syndrome in males.

Authors:  M Krajewska-Walasek; J Winkielman; R J Gorlin
Journal:  Am J Med Genet       Date:  1987-05

3.  Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.

Authors:  A Mégarbané; K Tomey; G Wakim
Journal:  Am J Med Genet       Date:  1997-11-28

4.  X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal.

Authors:  R J Gorlin; J Knier
Journal:  Am J Med Genet       Date:  1982-12

5.  Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

Authors:  Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris A Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2010-02-04       Impact factor: 11.025

6.  Melnick-Needles syndrome: indication for an autosomal recessive form.

Authors:  B ter Haar; B Hamel; J Hendriks; J de Jager
Journal:  Am J Med Genet       Date:  1982-12

Review 7.  Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases.

Authors:  Manjiri Dighe; Corinne Fligner; Edith Cheng; Bill Warren; Theodore Dubinsky
Journal:  Radiographics       Date:  2008 Jul-Aug       Impact factor: 5.333

Review 8.  Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

Authors:  B C Hamel; J M Draaisma; A J Pinckers; C Boetes; R L Hoppe; H H Ropers; H G Brunner
Journal:  Am J Med Genet       Date:  1995-04-10

9.  Frank-ter Haar syndrome with unusual clinical features.

Authors:  Munis Dundar; Cetin Saatci; Sener Tasdemir; Mustafa Akcakus; Ahmet Okay Caglayan; Yusuf Ozkul
Journal:  Eur J Med Genet       Date:  2009-03-19       Impact factor: 2.708
  9 in total
  6 in total

1.  Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome.

Authors:  Zeynep Aktas; Emine Esra Karaca; Nurcan Dogan; Tugba Çakmak; Metin Unlu; Levent Tok; Murat Hasanreisoglu
Journal:  Int Ophthalmol       Date:  2013-05-25       Impact factor: 2.031

2.  Common dental features and craniofacial development of three siblings with Ter Haar syndrome.

Authors:  K Parker; R Pabla; N Hay; P Ayliffe
Journal:  Eur Arch Paediatr Dent       Date:  2013-10-02

3.  Frank-ter Haar syndrome--additional findings?

Authors:  Taha Emre Köse; Cemil İşler; Ş Neslihan Şenel; Tolga Şitilci; İlknur Özcan; Nihan Aksakallı
Journal:  Dentomaxillofac Radiol       Date:  2016       Impact factor: 2.419

4.  Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Authors:  Charlotte L Bendon; Aimée L Fenwick; Jane A Hurst; Gudrun Nürnberg; Peter Nürnberg; Steven A Wall; Andrew O M Wilkie; David Johnson
Journal:  BMC Med Genet       Date:  2012-11-09       Impact factor: 2.103

5.  Significance of the Tks4 scaffold protein in bone tissue homeostasis.

Authors:  Virag Vas; Tamás Kovács; Szandra Körmendi; Andrea Bródy; Gyöngyi Kudlik; Bálint Szeder; Diána Mező; Dóra Kállai; Kitti Koprivanacz; Balázs L Merő; Metta Dülk; József Tóvári; Péter Vajdovich; Ş Neslihan Şenel; Ilknur Özcan; Zsuzsanna Helyes; Csaba Dobó-Nagy; László Buday
Journal:  Sci Rep       Date:  2019-04-08       Impact factor: 4.379

6.  Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells.

Authors:  Bálint Szeder; Júlia Tárnoki-Zách; Dóra Lakatos; Virág Vas; Gyöngyi Kudlik; Balázs Merő; Kitti Koprivanacz; László Bányai; Lilla Hámori; Gergely Róna; András Czirók; András Füredi; And László Buday
Journal:  Cells       Date:  2019-10-29       Impact factor: 6.600
  6 in total

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