• Issue

    American Journal of Medical Genetics: Volume 44, Issue 6

    fmi, 705-864
    1 December 1992
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Masthead

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Masthead

  • Page: fmi
  • First Published: 1 December 1992

Articles

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Autosomal dominant insulin resistance syndrome due to a postbinding defect

MUDr. E. Seemanová,  H. W. Rüdiger,  M. Dreyer, 
  • Pages: 705-712
  • First Published: 1 December 1992

Brief Clinical Reports

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Late diagnosis of phenylketonuria in a bedouin mother

Dr. R. Usha,  R. Uma,  T. I. Farag,  Y. Girish,  M. M. A. Al-Ghanim,  K. Al-Najdi,  S. A. Al-Awadi,  M. H. El-Badramany, 
  • Pages: 713-715
  • First Published: 1 December 1992
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Rapadilino syndrome

Fernando Regla Vargas,  Dr. José Carlos Cabral de Almeida,  Juan Clinton Llerena Jr.,  Dimas Fagundes Reis, 
  • Pages: 716-719
  • First Published: 1 December 1992

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Williams syndrome in adults

E. Lopez-Rangel,  M. Maurice,  B. McGillivray,  Dr. J. M. Friedman, 
  • Pages: 720-729
  • First Published: 1 December 1992
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Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorder

Piranit N. Kantaputra D.D.S., M.S.,  Robert J. Gorlin,  Leonard O. Langer Jr., 
  • Pages: 730-737
  • First Published: 1 December 1992
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Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity

J. Bonaventure,  R. Stanescu,  V. Stanescu,  J. C. Allain,  M. P. Muriel,  D. Ginisty,  P. Maroteaux, 
  • Pages: 738-753
  • First Published: 1 December 1992
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Choanal atresia: Evidence for autosomal recessive inheritance

Ruth Gershoni-Baruch MD, 
  • Pages: 754-756
  • First Published: 1 December 1992
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New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects

L. T. Middleton M.D.,  V. Anastasiades,  K. Panayidou,  D. Georghiou,  E. Kalli,  G. Gabriel,  N. C. Myrianthopoulos, 
  • Pages: 757-761
  • First Published: 1 December 1992
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Huntington disease in black Zimbabwean families living near the Mozambique border

Dr. Euan M. Scrimgeour M.D.,  John W. Pfumojena, 
  • Pages: 762-766
  • First Published: 1 December 1992
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Upper limb deficiencies and associated malformations: A population-based study

Dr. Ursula G. Froster,  Patricia A. Baird, 
  • Pages: 767-781
  • First Published: 1 December 1992
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Congenital defects of the limbs and alcohol exposure in pregnancy: Data from a population based study

Dr. Ursula G. Froster,  Patricia A. Baird, 
  • Pages: 782-785
  • First Published: 1 December 1992

Brief Clinical Reports

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Delayed membranous cranial ossification in a mother and child

Ariadna Gonzalez-del Angel,  Dra. Alessandra Carnevale,  Raul Takenaga, 
  • Pages: 786-789
  • First Published: 1 December 1992

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Tricho-Rhino-Phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion

Feliciano J. Ramos,  Donna M. McDonald-McGinn,  Beverly S. Emanuel,  Elaine H. Zackai M.D., 
  • Pages: 790-794
  • First Published: 1 December 1992

Brief Clinical Reports

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Chondrodysplasia punctata: Another possible X-linked recessive case

C. P. Bennett,  A. Caroline Berry,  D. J. Maxwell,  Dr. Mary J. Seller, 
  • Pages: 795-799
  • First Published: 1 December 1992
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Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family

A. Richieri-Costa,  M. L. Guion-Almeida,  Nina A. B. Pagnan, 
  • Pages: 800-802
  • First Published: 1 December 1992

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Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients

Aguinaldo C. Nardi,  Ubirajara Ferreira,  Nelson Rodrigues Netto Jr.,  Luis Alberto Magna,  E. S. O. Rodini,  A. Richieri-Costa, 
  • Pages: 803-806
  • First Published: 1 December 1992
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Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome

P. Franceschini,  M. P. Vardeu,  L. Dalforno,  F. Signorile,  D. Franceschini,  R. Lala,  P. Matarazzo, 
  • Pages: 807-812
  • First Published: 1 December 1992

Brief Clinical Reports

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VATER/VACTERL association: Clinical variability and expanding phenotype including laryngeal stenosis

Dott. Giovanni Corsello,  Emiliano Maresi,  Anna Maria Corrao,  Ubaldo Dimita,  Manlio Lo Cascio,  Marina Cammarata,  Liborio Giuffrè, 
  • Pages: 813-815
  • First Published: 1 December 1992

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Cytogenetic guidelines for fragile X studies tested in routine practice

Gordon W. Dewald Ph.D.,  Diane D. Buckley,  Jack L. Spurbeck,  Syed M. Jalal, 
  • Pages: 816-821
  • First Published: 1 December 1992

Brief Clinical Reports

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Prenatal exclusion of choroideremia

J. A. J. M. van den Hurk,  P. M. van Zandvoort,  F. Brunsmann,  I. H. Pawlowitzki,  W. Holzgreve,  P. Szabo,  F. P. M. Cremers,  B. A. van Oost, 
  • Pages: 822-823
  • First Published: 1 December 1992

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False-negative prenatal diagnosis of restrictive dermopathy

B. C. J. Hamel,  R. Happle,  P. M. Steylen,  L. A. A. Kollée,  J. H. Schuurmans Stekhoven,  J. G. Nijhuis,  R. Rauskolb,  I. Anton-Lamprecht, 
  • Pages: 824-826
  • First Published: 1 December 1992
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Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia

M. Lerone,  M. Soliani,  D. Corea,  G. Romeo,  G. Martucciello,  M. C. Silengo, 
  • Pages: 827-829
  • First Published: 1 December 1992
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Infantile autism—fragile X: Molecular findings support genetic heterogeneity

Helena Malmgren,  Karl-Henrik Gustavson,  Jan Wahlström,  Ingrid Arpi-Henriksson,  Jurgen Bensch,  Ulf Pettersson,  Dr. Niklas Dahl, 
  • Pages: 830-833
  • First Published: 1 December 1992
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Female twin with hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning

Dr. Bryan Winchester,  Elisabeth Young,  Stella Geddes,  Sally Genet,  Jane Hurst,  Helen Middelton-Price,  Nicola Williams,  Michael Webb,  Alex Habel,  Susan Malcolm, 
  • Pages: 834-838
  • First Published: 1 December 1992

Letters to the Editor

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Familial male breast cancer

Alan R. Hauser,  Irving J. Lerner,  Richard A. King, 
  • Pages: 839-840
  • First Published: 1 December 1992
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Regarding corsello et al

Dr. A. S. Knisely, 
  • Page: 841
  • First Published: 1 December 1992
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Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

Dr. Geoffrey A. Machin, 
  • Page: 842
  • First Published: 1 December 1992
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Reply to Drs. Machin and Knisely

Dr. Giovanni Corsello, 
  • Page: 843
  • First Published: 1 December 1992
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Comment on the paper of Qumsiyeh et al. (Am J Med Genet 41: 99–101, 1991)

Dr. Leopoldo Zelante,  Rita Mingarelli,  Bruno Dallapiccola, 
  • Pages: 844-845
  • First Published: 1 December 1992
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Reply to Zelante et al

Dr. Mazin B. Qumsiyeh,  R. Sid Wilroy,  Joseph N. Peeden,  Avirachan T. Tharapel, 
  • Page: 846
  • First Published: 1 December 1992
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Anorectal and esophageal anomalies with down syndrome

Dr. Claudine P. Torfs,  Thomas F. Bateson,  Cynthia J. R. Curry, 
  • Page: 847
  • First Published: 1 December 1992
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Anorectal and esophageal anomalies in down syndrome

Dr. María-Luisa Martínez-Frías,  Miguel Urioste,  Ana Cereijo,  Elvira Rodríguez-Pinilla, 
  • Pages: 848-849
  • First Published: 1 December 1992
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Relation between the prevalence of anorectal malformations in children with down syndrome and their prevalence in the general population

Joël Zlotogora, 
  • Page: 850
  • First Published: 1 December 1992
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Duty to disclose

Dr. Digamber S. Borgaonker, 
  • Page: 851
  • First Published: 1 December 1992
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Duty to disclose: Response to Dr. Borgaonkar

Dr. Mary Z. Pelias, 
  • Pages: 852-853
  • First Published: 1 December 1992
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New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255

Pr. Jean Frézal, 
  • Page: 854
  • First Published: 1 December 1992
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Response to Prof. Frézal

Dr. Gillian Turner, 
  • Page: 855
  • First Published: 1 December 1992

Articles

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Limb anomalies following chorionic villus sampling: A registry based case-control study

Pierpaolo Mastroiacovo,  Lorenzo Davide Botto,  Denise Pontes Cavalcanti,  Faustina Lalatta,  Angelo Selicorni,  Alberto Eugenio Tozzi,  Dante Baronciani,  Anna Chiara Cigolotti,  Sergio Giordano,  Fabio Petroni,  Francesco Puppin, 
  • Pages: 856-864
  • First Published: 1 December 1992