Literature DB >> 641955

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

M Gewitz, R Dinwiddie, T Yuille, F Hill, C O Carter.   

Abstract

A case of cleft palate and accessory metacarpal of index finger syndrome is described and related to the presence of Pierre Robin syndrome in a stillborn sibling. The significance of this relationship is discussed.

Entities:  

Mesh：

Year:  1978        PMID： 641955      PMCID： PMC1013670          DOI： 10.1136/jmg.15.2.162

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  [The Pierre Robin syndrome: unusual associated developmental defects].

Authors:  W Holthusen
Journal:  Ann Radiol (Paris)       Date:  1972 Mar-Apr

2.  Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

Authors:  R J Gorlin; J Cervenka; R C Anderson; J J Sauk; W D Bevis
Journal:  Am J Dis Child       Date:  1970-02

3.  Glossoptotic hypoxia and micrognathia--the Pierre Robin syndrome reviewed. Early recognition and prompt surgical treatment is important for survival.

Authors:  P B Farnsworth; P T Pacik
Journal:  Clin Pediatr (Phila)       Date:  1971-10       Impact factor: 1.168

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

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

1.  A male infant with the Catel-Manzke syndrome and dislocatable knees.

Authors:  E M Thompson; R M Winter; M J Williams
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

2.  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

3.  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

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

Authors:  E Brude
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183
  4 in total

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