Literature DB >> 1583650

The Baller-Gerold syndrome.

L Van Maldergem1, A Verloes, L Lejeune, Y Gillerot.   

Abstract

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.

Entities:  

Mesh:

Year:  1992        PMID: 1583650      PMCID: PMC1015930          DOI: 10.1136/jmg.29.4.266

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


  8 in total

1.  [Healing of a fracture in an unusual case of congenital anomaly of the upper extremities].

Authors:  M GEROLD
Journal:  Zentralbl Chir       Date:  1959-05-23       Impact factor: 0.942

Review 2.  Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.

Authors:  J M Boudreaux; M A Colon; G D Lorusso; E A Parro; M Z Pelias
Journal:  Am J Med Genet       Date:  1990-12

3.  The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

Authors:  S M Huson; C S Rodgers; C M Hall; R M Winter
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

4.  Craniosynostosis--radial aplasia syndrome.

Authors:  L J Greitzer; K L Jones; B S Schnall; D W Smith
Journal:  J Pediatr       Date:  1974-05       Impact factor: 4.406

5.  Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins.

Authors:  K C Woon; V G Kokich; S K Clarren; M M Cohen
Journal:  Teratology       Date:  1980-08

6.  Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

Authors:  K Anyane-Yeboa; L Gunning; A D Bloom
Journal:  Clin Genet       Date:  1980-02       Impact factor: 4.438

7.  Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.

Authors:  M Z Pelias; D W Superneau; T F Thurmon
Journal:  Am J Med Genet       Date:  1981

8.  Craniosynostosis-radial aplasia: Baller-Gerold syndrome.

Authors:  M Feingold; S L Sklower; J P Willner; R H Desnick; M M Cohen
Journal:  Am J Dis Child       Date:  1979-12
  8 in total
  10 in total

1.  Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Authors:  Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David W Stockton; Brendan Lee
Journal:  Am J Hum Genet       Date:  2005-05-27       Impact factor: 11.025

2.  Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Authors:  L Van Maldergem; H A Siitonen; N Jalkh; E Chouery; M De Roy; V Delague; M Muenke; E W Jabs; J Cai; L L Wang; S E Plon; C Fourneau; M Kestilä; Y Gillerot; A Mégarbané; A Verloes
Journal:  J Med Genet       Date:  2005-06-17       Impact factor: 6.318

3.  Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Authors:  Yves Sznajer; H Annika Siitonen; Gaia Roversi; Chantal Dangoisse; Michèle Scaillon; France Ziereisen; Sylvie Tenoutasse; Marjo Kestilä; Lidia Larizza
Journal:  Eur J Pediatr       Date:  2007-03-20       Impact factor: 3.183

Review 4.  Baller-Gerold syndrome associated with congenital portal venous malformation.

Authors:  R Savarirayan; P Tomlinson; E Thompson
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

Review 5.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

6.  The mutation spectrum in RECQL4 diseases.

Authors:  H Annika Siitonen; Jenni Sotkasiira; Martine Biervliet; Abdelmadjid Benmansour; Yline Capri; Valerie Cormier-Daire; Barbara Crandall; Katariina Hannula-Jouppi; Raoul Hennekam; Denise Herzog; Kathelijn Keymolen; Marita Lipsanen-Nyman; Peter Miny; Sharon E Plon; Stefan Riedl; Ajoy Sarkar; Fernando R Vargas; Alain Verloes; Lisa L Wang; Helena Kääriäinen; Marjo Kestilä
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

Review 7.  Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

Authors:  F J Ramos Fuentes; L Nicholson; C I Scott
Journal:  Eur J Pediatr       Date:  1994-07       Impact factor: 3.183

8.  Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Authors:  Elisa Adele Colombo; Hatice Mutlu-Albayrak; Yousef Shafeghati; Mine Balasar; Juliette Piard; Davide Gentilini; Anna Maria Di Blasio; Cristina Gervasini; Lionel Van Maldergem; Lidia Larizza
Journal:  Front Pediatr       Date:  2019-05-28       Impact factor: 3.418

Review 9.  Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies.

Authors:  Chiara Parodi; Elisabetta Di Fede; Angela Peron; Ilaria Viganò; Paolo Grazioli; Silvia Castiglioni; Richard H Finnell; Cristina Gervasini; Aglaia Vignoli; Valentina Massa
Journal:  Front Cell Dev Biol       Date:  2021-04-20

Review 10.  Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Authors:  Xiaohua Xu; Chou-Wei Chang; Min Li; Chao Liu; Yilun Liu
Journal:  Front Mol Biosci       Date:  2021-11-18
  10 in total

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