Literature DB >> 6540680

Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome).

E Brude.   

Abstract

Since the first description by Catel and Manzke of hyperphalangy and clinodactyly of the index finger associated with Robin malformation sequence, seven further cases have been published. In two families more than one case occurred. Another family is presented with possibly two affected boys showing variable features of the syndrome. It is proposed that the trait is X-chromosomal, recessively inherited.

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Year:  1984        PMID: 6540680     DOI: 10.1007/bf00442455

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  4 in total

1.  A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

Authors:  R E Stevenson; H A Taylor; O M Burton; H B Hearn
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

2.  [Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone].

Authors:  H Manzke
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1966-09

3.  Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.

Authors:  M Gewitz; R Dinwiddie; T Yuille; F Hill; C O Carter
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

4.  Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature.

Authors:  V Sundaram; K Taysi; A F Hartmann; G D Shackelford; J P Keating
Journal:  Clin Genet       Date:  1982-06       Impact factor: 4.438

  4 in total
  1 in total

1.  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Authors:  Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

  1 in total

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