Literature DB >> 3351902

Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

M A Patton1, J Goodship, R Hayward, R Lansdown.   

Abstract

Twenty-nine patients with Apert's syndrome were ascertained through hospital records. The mean age was 19.3 years (range eight to 35 years). Further information was obtained on their intelligence, education, and employment records. Fourteen patients (48%) had a normal or borderline IQ (greater than 70), nine patients (31%) were mildly mentally retarded (IQ 50 to 70), four patients (14%) were moderately retarded (IQ 35 to 49), and two patients (7%) were severely retarded (IQ less than 35). Early craniectomy did not appear to improve intellectual outcome. Six of the seven school leavers with normal or borderline intelligence were in full time employment or vocational training.

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Year:  1988        PMID: 3351902      PMCID: PMC1015480          DOI: 10.1136/jmg.25.3.164

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


  5 in total

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Authors:  T I BERTELSEN
Journal:  Acta Ophthalmol Suppl       Date:  1958

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Authors:  L CROME
Journal:  J Ment Sci       Date:  1961-05

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Authors:  G R Hogan; M L Bauman
Journal:  J Pediatr       Date:  1971-11       Impact factor: 4.406

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Authors:  C E BLANK
Journal:  Ann Hum Genet       Date:  1960-05       Impact factor: 1.670

Review 5.  Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.

Authors:  M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1979
  5 in total
  9 in total

1.  Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

Authors:  Irene M J Mathijssen
Journal:  J Craniofac Surg       Date:  2015-09       Impact factor: 1.046

2.  Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Authors:  S F Slaney; M Oldridge; J A Hurst; G M Moriss-Kay; C M Hall; M D Poole; A O Wilkie
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

3.  Apert's syndrome with occipital encephalocele and absence of corpus callosum.

Authors:  R Gershoni-Baruch; T Nachlieli; J N Guilburd
Journal:  Childs Nerv Syst       Date:  1991-08       Impact factor: 1.475

Review 4.  Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review.

Authors:  Heron Werner; Pedro Castro; Pedro Daltro; Jorge Lopes; Gerson Ribeiro; Edward Araujo Júnior
Journal:  Childs Nerv Syst       Date:  2018-02-13       Impact factor: 1.475

Review 5.  Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review.

Authors:  Charles Raybaud; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2007-09-20       Impact factor: 1.475

6.  Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

Authors:  Kristina Aldridge; Cheryl A Hill; Jordan R Austin; Christopher Percival; Neus Martinez-Abadias; Thomas Neuberger; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier
Journal:  Dev Dyn       Date:  2010-03       Impact factor: 3.780

Review 7.  Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-12-02       Impact factor: 1.475

Review 8.  Syndromic Craniosynostosis: Complexities of Clinical Care.

Authors:  Justine O'Hara; Federica Ruggiero; Louise Wilson; Greg James; Graeme Glass; Owase Jeelani; Juling Ong; Richard Bowman; Michelle Wyatt; Robert Evans; Martin Samuels; Richard Hayward; David J Dunaway
Journal:  Mol Syndromol       Date:  2019-01-16

Review 9.  The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.

Authors:  Eloise Stanton; Mark Urata; Jian-Fu Chen; Yang Chai
Journal:  Dis Model Mech       Date:  2022-04-22       Impact factor: 5.732

  9 in total

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