• Issue

    American Journal of Medical Genetics: Volume 75, Issue 5

    449-543
    17 February 1998
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New Syndrome?

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Prominent, constricted ears with malformed condyle of the mandible

Michael Jampol,  Gabriela Repetto,  David A. Keith,  Hugh Curtin,  John Remensnyder,  Lewis B. Holmes, 
  • Pages: 449-452
  • First Published: 06 December 1998

Research Articles

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Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: A distinct autosomal-recessive disorder

Augusto Sarralde,  Martha C. Reynoso,  Zamira Nazará,  Fernando Soto,  Alejandro Hernández, 
  • Pages: 453-460
  • First Published: 06 December 1998
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Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives

B. Cheuvront,  J.R. Sorenson,  N.P. Callanan,  S.C. Stearns,  B.M. DeVellis, 
  • Pages: 461-468
  • First Published: 06 December 1998
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Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities

Dorothy K. Grange,  Ian C. Balfour,  Su-chiung Chen,  Ellen G. Wood, 
  • Pages: 469-480
  • First Published: 06 December 1998
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Familial neuronal migration disorder: Subcortical laminar heterotopia in a mother and pachygyria in the son

Jun Toyama,  Hidetoshi Kasuya,  Sari Higuchi,  Hiroshi Kondo,  Yoshihiro Naganuma,  Makoto Uchiyama, 
  • Pages: 481-484
  • First Published: 06 December 1998
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Evidence for major genetic control of wheeze in relation to history of respiratory allergy: Humboldt family study

Yue Chen,  Donna C. Rennie,  Lori A. Lockinger,  James A. Dosman, 
  • Pages: 485-491
  • First Published: 06 December 1998
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Dyskeratosis congenita with linear areas of severe cutaneous involvement

Eulalia Baselga,  Beth A. Drolet,  Peter van Tuinen,  Nancy B. Esterly,  Rudolf Happle, 
  • Pages: 492-496
  • First Published: 06 December 1998
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Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

Eva Bermejo,  María-Luisa Martínez-Frías, 
  • Pages: 497-504
  • First Published: 06 December 1998

Brief Clinical Reports

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Bilateral Poland anomaly

İbrahim Karnak,  F. Cahit Tanyel,  Ergül Tunçbilek,  Metin Ünsal,  Nebil Büyükpamukçu, 
  • Pages: 505-507
  • First Published: 06 December 1998

Research Articles

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Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières

D. Kumar,  C. Rittey,  A.H. Cameron,  S. Variend, 
  • Pages: 508-515
  • First Published: 06 December 1998
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X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

M.E. Hodes,  Andreas Hadjisavvas,  Ian J. Butler,  Antonina Aydanian,  Stephen R. Dlouhy, 
  • Pages: 516-517
  • First Published: 06 December 1998
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Antenatal diagnosis of lethal skeletal dysplasias

Anne E. Tretter,  Roger C. Saunders,  Carol M. Meyers,  Jeffrey S. Dungan,  Kathryn Grumbach,  Chen-Chih J. Sun,  Andrew B. Campbell,  Eric A. Wulfsberg, 
  • Pages: 518-522
  • First Published: 06 December 1998
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Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers

Teresa Costa,  Gale Ramsby,  Fatima Cassia,  Klaus-Ruediger Peters,  Jose Soares,  Jordão Correa,  Antonio Quelce-Salgado,  Petros Tsipouras, 
  • Pages: 523-529
  • First Published: 06 December 1998

Brief Clinical Reports

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New case of mosaic tetrasomy 9p with additional neurometabolic findings

Thomas Eggermann,  Eva Rossier,  Ute Theurer-Mainka,  Claudia Backsch,  Ute Klein-Vogler,  Herbert Enders,  Peter Kaiser, 
  • Pages: 530-533
  • First Published: 06 December 1998

Letters to the Editor

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Deletion 8p syndrome

Maria Cristina Digilio,  Bruno Marino,  Paolo Guccione,  Aldo Giannotti,  Rita Mingarelli,  Bruno Dallapiccola, 
  • Pages: 534-536
  • First Published: 06 December 1998
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Subglottic web in a mother and son with 22q11.2 deletion

Michael Marble,  Eva Morava,  Fern Tsien,  Ronald Amedee,  Maria Pierce, 
  • Page: 537
  • First Published: 06 December 1998
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Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

Azra H. Ligon,  Lorraine Potocki,  Lisa G. Shaffer,  Dominique Stickens,  Glen A. Evans, 
  • Pages: 538-540
  • First Published: 06 December 1998
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Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome

Agatino Battaglia,  John C. Carey, 
  • Page: 541
  • First Published: 06 December 1998

Book Reviews

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The ethics of human gene therapy

F. Clarke Fraser, 
  • Pages: 542-543
  • First Published: 06 December 1998