Literature DB >> 3723561

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

E M Thompson, R M Winter, M J Williams.   

Abstract

A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.

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Mesh：

Year:  1986        PMID： 3723561      PMCID： PMC1049644          DOI： 10.1136/jmg.23.3.271

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


  9 in total

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

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

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.  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.  Congenital malformations in offspring of phenylketonuric mothers.

Authors:  R E Stevenson; C C Huntley
Journal:  Pediatrics       Date:  1967-07       Impact factor: 7.124

5.  Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome.

Authors:  M C Silengo; P Franceschini; A Cerutti; C Fabris
Journal:  Pediatr Radiol       Date:  1977-10-28

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

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

7.  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

8.  Maternal hyperphenylalaninemia fetal effects.

Authors:  A Lipson; B Beuhler; J Bartley; D Walsh; J Yu; M O'Halloran; W Webster
Journal:  J Pediatr       Date:  1984-02       Impact factor: 4.406

9.  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
  9 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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