Top

Published in:

01-08-2012 | Clinical Brief

Frank -Ter Haar Syndrome in a Newborn

Authors: P. Femitha, Rojo Joy, Bahubali D. Gane, B. Adhisivam, B. Vishnu Bhat

Published in: Indian Journal of Pediatrics | Issue 8/2012

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.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.

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.PubMedCrossRef

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

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Title: Frank -Ter Haar Syndrome in a Newborn
Authors: P. Femitha
Rojo Joy
Bahubali D. Gane
B. Adhisivam
B. Vishnu Bhat
Publication date: 01-08-2012
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 8/2012
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-011-0599-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Frank -Ter Haar Syndrome in a Newborn

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 8/2012

IgM Nephropathy in India: A Single Centre Experience

Reference Values of Serum Cystatin-C for Full-Term and Preterm Neonates in Istanbul

Erratum to: Retinoblastoma: An Overview

Erratum to: Kuppuswamy’s Socioeconomic Status Scale – Revision for 2011 and Formula for Real-Time Updating

Sirenomelia Sequence with other Rare Congenital Anomalies

Unusual Metallic Foreign Bodies in the Larynx: Two Case Reports