• Issue

    American Journal of Medical Genetics: Volume 47, Issue 7

    fmi, 939-1145
    15 November 1993
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Masthead

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Masthead

  • Page: fmi
  • First Published: 15 November 1993

Introductions

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Papers on Brachmann-de Lange syndrome presented at the 12th annual David W. Smith workshop on morphogenesis and malformations

John M. Graham Jr. M.D., Sc.D., 
  • Page: 939
  • First Published: 15 November 1993

Articles

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de Lange syndrome: A clinical review of 310 individuals

L. Jackson,  A. D. Kline,  M. A. Barr,  S. Koch, 
  • Pages: 940-946
  • First Published: 15 November 1993
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Clinical variability within Brachmann-de Lange syndrome: A proposed classification system

Dr. Margot I. van Allen,  Giorgio Filippi,  Jacqueline Siegel-Bartelt,  Siu-Li Yong,  Barbara McGillivray,  Ron M. Zuker,  Charles R. Smith,  J. F. Magee,  Susan Ritchie,  Ants Toi,  James F. Reynolds, 
  • Pages: 947-958
  • First Published: 15 November 1993
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Brachmann-de Lange syndrome. Delineation of the clinical phenotype

M. Ireland,  D. Donnai,  J. Burn, 
  • Pages: 959-964
  • First Published: 15 November 1993
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Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy

Carolyn Bay M.D.,  Joyce Mauk,  Jerilynn Radcliffe,  Paige Kaplan, 
  • Pages: 965-968
  • First Published: 15 November 1993
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Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals

John B. Moeschler M.D.,  John M. Graham Jr., 
  • Pages: 969-976
  • First Published: 15 November 1993
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Variability of the Brachmann-de Lange Syndrome

A. Selicorni M.D.,  F. Lalatta,  E. Livini,  V. Briscioli,  T. Piguzzi,  D. Clerici Bagozzi,  P. Mastroiacovo,  G. Zampino,  G. Gaeta,  A. Pugliese,  P. Cerutti-Mainaroli,  A. Guala,  L. Zelante,  M. Stabile,  S. Belli,  P. Franceschini,  A. Gianotti,  G. Scarano, 
  • Pages: 977-982
  • First Published: 15 November 1993
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On the variability of the Brachmann-de Lange syndrome in seven patients

J. G. Leroy M.D., Ph.D.,  J. Persijn,  V. van De Weghe,  R. van Heck,  A. Oostra,  S. De Bie,  M. Craen, 
  • Pages: 983-991
  • First Published: 15 November 1993
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Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome

Carol L. Clericuzio M.D., 
  • Pages: 992-994
  • First Published: 15 November 1993
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Brachmann-de Lange syndrome with normal IQ

Howard M. Saal M.D.,  Carole A. Samango-Sprouse,  Leslie A. Rodnan,  Kenneth N. Rosenbaum,  Deborah A. Custer, 
  • Pages: 995-998
  • First Published: 15 November 1993
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Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype

Rebert A. Saul M.D.,  R. Curtis Rogers,  Mary C. Phelan,  Roger E. Stevenson, 
  • Pages: 999-1002
  • First Published: 15 November 1993
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Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome

Merlin G. Butler M.D., Ph.D.,  George A. Dahir,  David D. Gale,  F. John Meaney, 
  • Pages: 1003-1005
  • First Published: 15 November 1993
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Radiological features in Brachmann-de Lange syndrome

Stephen R. Braddock,  Ralph S. Lachman,  Cathy Charman Stoppenhagen,  John C. Carey,  Maggie Ireland,  John B. Moeschler,  Christopher Cunniff,  John M. Graham Jr. M.D., Sc.D., 
  • Pages: 1006-1013
  • First Published: 15 November 1993
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Hemimelia in Brachmann-de Lange syndrome (BDLS): A patient with severe deficiency of the upper and lower limbs

Dr. R. A. Pfeiffer,  J. Correll, 
  • Pages: 1014-1017
  • First Published: 15 November 1993
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Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome

Christopher Cunniff M.D.,  Cynthia J. R. Curry,  John C. Carey,  John M. Graham Jr.,  Charles A. Williams,  Sabine Stengel-Rutkowski,  Sabine Lüttgen,  Peter Meinecke, 
  • Pages: 1018-1021
  • First Published: 15 November 1993

Brief Clinical Report

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Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome

Russel D. Jelsema,  Nelson B. Isada,  Nadya J. Kazzi,  Kate Sargent,  Michael R. Harrison,  Mark P. Johnson,  Mark I. Evans M.D., 
  • Pages: 1022-1023
  • First Published: 15 November 1993

Letter to the Editors

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Diaphragmatic defect in Brachmann-de Lange syndrome: A further observation

Dr. Rainer Pankau,  Ute Jänig, 
  • Pages: 1024-1025
  • First Published: 15 November 1993

Articles

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Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome

Annemarie Sommer M.D., 
  • Pages: 1026-1028
  • First Published: 15 November 1993
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Gastrointestinal abnormalities: A significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome

Marilyn J. Bull M.D.,  Joseph F. Fitzgerald,  Stephen A. Hiefetz,  Timothy J. Brei, 
  • Pages: 1029-1034
  • First Published: 15 November 1993
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Fetal biometry in the Brachmann-de Lange syndrome

Mark A. Kliewer M.D.,  Stephen G. Kahler,  Barbara S. Hertzberg,  James D. Bowie, 
  • Pages: 1035-1041
  • First Published: 15 November 1993
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Growth manifestations in the Brachmann-de Lange syndrome

Antonie D. Kline M.D.,  Marie Barr,  Laird G. Jackson, 
  • Pages: 1042-1049
  • First Published: 15 November 1993
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Physical growth in Brachmann-de Lange syndrome

Boris G. Kousseff M.D.,  Joanne Thomson-Meares,  Patricia Newkirk,  Allen W. Root, 
  • Pages: 1050-1052
  • First Published: 15 November 1993
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Developmental data on individuals with the Brachmann-de Lange syndrome

Antonie D. Kline M.D.,  Christian Stanley,  Jacqueline Belevich,  Karen Brodsky,  Marie Barr,  Laird G. Jackson, 
  • Pages: 1053-1058
  • First Published: 15 November 1993
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Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome

Marjorie T. Goodban Ph.D., 
  • Pages: 1059-1063
  • First Published: 15 November 1993

Brief Clinical Report

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Familial Brachmann-de Lange syndrome: Further evidence for autosomal dominant inheritance and review of the literature

Murray Feingold M.D.,  Angela E. Lin, 
  • Pages: 1064-1067
  • First Published: 15 November 1993

Articles

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Partial duplication of 3q (q25.1→q26.1) without the Brachmann-de Lange phenotype

E. Lopez-Rangel,  F. J. Dill,  M. A. Hrynchak,  M. I. Van Allen, 
  • Pages: 1068-1071
  • First Published: 15 November 1993
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Asymmetric and symmetric long bone bowing in two sibs: An apparently new bone dysplasia

Laura A. Moore,  Cynthia A. Moore,  John A. Smith,  David D. Weaver M.D., 
  • Pages: 1072-1077
  • First Published: 15 November 1993
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DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

Thomas A. Wilson M.D.,  Sandra L. Blethen,  Ambrose Vallone,  D. Scott Alenick,  Patricia Nolan,  Arnold Katz,  Thomas P. Amorillo,  Elizabeth Goldmuntz,  Beverly S. Emanuel,  Deborah A. Driscoll, 
  • Pages: 1078-1082
  • First Published: 15 November 1993
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Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families

Dr. Anwar A. Dudin,  Annie Rambaud-Cousson, 
  • Pages: 1083-1085
  • First Published: 15 November 1993
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Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia

Marie T. Greally M.D.,  Tamison Jewett,  Wilbur L. Smith Jr.,  George D. Penick,  Roger A. Williamson, 
  • Pages: 1086-1091
  • First Published: 15 November 1993
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Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies

Geraldine A. McDowell,  Tina M. Cowan,  Miriam G. Blitzer,  Dr. Carol L. Greene, 
  • Pages: 1092-1095
  • First Published: 15 November 1993
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Limb deficiencies, chorion villus sampling, and advanced maternal age

Jane Halliday,  Judith Lumley,  Leslie J. Sheffield,  Paul A. L. Lancaster, 
  • Pages: 1096-1098
  • First Published: 15 November 1993
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Autopsy findings in a severely affected infant with a 2q terminal deletion

Brenda L. Waters M.D.,  Elizabeth F. Allen,  Pamela C. Gibson,  Troy Johnston, 
  • Pages: 1099-1103
  • First Published: 15 November 1993
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Roberts syndrome: A review of 100 cases and a new rating system for severity

David J. Van Den Berg,  Dr. Uta Francke, 
  • Pages: 1104-1123
  • First Published: 15 November 1993
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Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome

Kimberly A. Ellison,  E. Jill Roth,  Edward R. B. McCabe,  A. Craig Chinault,  Huda Y. Zoghbi M.D., 
  • Pages: 1124-1134
  • First Published: 15 November 1993
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Report on two patients with Costello syndrome and sialuria

Maja Di Rocco,  Rosanna Gatti,  Paolo Gandullia,  Arrigo Barabino,  Paolo Picco,  Carla Borrone, 
  • Pages: 1135-1140
  • First Published: 15 November 1993

Letter to the Editors

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Transverse limb deficiency, oro-mandibular limb hypogenesis sequences, and chorionic villus biopsy: Human and animal experimental evidence for a uterine vascular pathogenesis

Anthony H. Lipson FRACP,  William S. Webster, 
  • Pages: 1141-1143
  • First Published: 15 November 1993
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Interstitial deletion in chromosome 1: Assignment of the breakpoints

Dr. Angelika Köhler, 
  • Page: 1144
  • First Published: 15 November 1993
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Reply to Dr. Köhler

Arthur Grix,  Paula Walling,  Terrance D. Wardinsky M.D., 
  • Page: 1145
  • First Published: 15 November 1993