• Issue

    American Journal of Medical Genetics: Volume 43, Issue 3

    fmi, 511-650
    1 June 1992
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Masthead

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Masthead

  • Page: fmi
  • First Published: 1 June 1992

Editorial

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David William Hollister, M.D. [1941–1991]: A remembrance

Maurice Godfrey, 
  • Pages: 511-512
  • First Published: 1 June 1992

Clinical Report

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Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome

Rainer Pankau M. D.,  Carl-Joachim Partsch,  Johannes Funda,  Wolfgang Günther Sippell, 
  • Pages: 513-516
  • First Published: 1 June 1992

Articles

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Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: Nosology of dysosteosclerosis

David Chitayat M. D.,  Keneth Silver,  E. Michel Azouz, 
  • Pages: 517-523
  • First Published: 1 June 1992
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Incidence and associations of single umbilical artery in prenatally diagnosed malformed, midtrimester fetuses: A review of 62 cases

Károly Csécsei,  Tamáa Kovács,  Stephen A. Hinchliffe,  Dr. Zoltán Papp, 
  • Pages: 524-530
  • First Published: 1 June 1992

Brief Clinical Report

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Monosomy 18q 12.1→21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature

Dr. Natalie Krasikov,  Kate Thompson,  Gurbax Singh Sekhon, 
  • Pages: 531-534
  • First Published: 1 June 1992
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Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases

Dr. Albert E. Chudley,  Sylvia Kovnats,  Manoranjan Ray, 
  • Pages: 535-538
  • First Published: 1 June 1992

Articles

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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature

Dr. Alain Verloes,  Nicole Mulliez,  Marie Gonzales,  Françoise Laloux,  Trinh Hermanns-Lě,  Gérald E. Piérard,  Lucien Koulischer, 
  • Pages: 539-547
  • First Published: 1 June 1992
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Autosomal dominant polycystic kidney disease: New information for genetic counselling

John C. Bear,  Patrick S. Parfrey,  Janet M. Morgan,  Christopher J. Martin,  Benvon C. Cramer, 
  • Pages: 548-553
  • First Published: 1 June 1992
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Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype

Natalie Krasikov M. D.,  Norma Takaesu,  Terry Hassold,  Judith F. Knops,  Wayne H. Finley,  Paula Scarbrough, 
  • Pages: 554-560
  • First Published: 1 June 1992

Brief Clinical Report

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Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome

Dr. Masataka Fujiwara,  Toru Yoshimoto,  Yasuyuki Morita,  Makoto Kamada, 
  • Pages: 561-564
  • First Published: 1 June 1992

Articles

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New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies

A. Richieri-Costa,  M. L. Guion-Almeida,  A. L. Ramos, 
  • Pages: 565-568
  • First Published: 1 June 1992
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Endocardial cushion defect: Further studies of “isolated” versus “syndromic” occurrence

Rivka Carmi,  Joann A. Boughman Ph.D.,  Charlotte Ferencz, 
  • Pages: 569-575
  • First Published: 1 June 1992
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Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20

Dr. Fahed Halal,  David Chitayat,  Hasu Parikh,  Bernard Rosenblatt,  Julie Tranchemontagne,  Michel Vekemans,  Michel Potier, 
  • Pages: 576-579
  • First Published: 1 June 1992
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Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy

Kiyoko Ikeya,  Kayoko Saito,  Kensuke Hayashi,  Hikaru Tanaka,  Yasuko Hagiwara,  Mikiharu Yoshida,  Akemi Yamauchi,  Yukio Fukuyama,  Tsuneo Ishiguro,  Chikahiko Eguchi,  Dr. Eijiro Ozawa, 
  • Pages: 580-587
  • First Published: 1 June 1992
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Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons

A. J. Kirkilionis,  A. E. Chudley,  C. R. Greenberg,  D. L. Yan,  B. McGillivray,  J. L. Hamerton, 
  • Pages: 588-591
  • First Published: 1 June 1992
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Recurrence of extrahepatic biliary atresia in two half sibs

Thirumazhisai S. Gunasekaran,  Dr. Eric G. Hassall,  Urs P. Steinbrecher,  Siu-Li Yong, 
  • Pages: 592-594
  • First Published: 1 June 1992
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Opitz (BBB/G) syndrome: Oral manifestations

John K. Brooks D.D.S.,  Claire O. Leonard,  Peter J. Coccaro Jr., 
  • Pages: 595-601
  • First Published: 1 June 1992
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Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations

Israel Shapiro,  Dr. Zvi Borochowitz,  Shimon Degani,  Hanna Dar,  Izu Ibschitz,  Mordechai Sharf, 
  • Pages: 602-605
  • First Published: 1 June 1992
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Completeness of catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes

Dr. Leo P Ten Kate, 
  • Pages: 606-608
  • First Published: 1 June 1992

Brief Clinical Report

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Additional case of neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia

Jose M. Santolaya,  Alfonso Grijalbo,  Alfonso Delgado,  Gabriel Erdozaín, 
  • Pages: 609-611
  • First Published: 1 June 1992

Articles

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Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals

Dr. Louise A. Brueton,  Ann Reeve,  Richard Ellis,  Peter Husband,  Elizabeth M. Thompson,  Helen M. Kingston, 
  • Pages: 612-618
  • First Published: 1 June 1992
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Vascular abnormalities at the site of limb deficiency

Dr. Bryan D. Hall, 
  • Pages: 619-620
  • First Published: 1 June 1992
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Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

Claude Léonard,  Jean Loup Huret,  Marie-Claude Imbert,  Yves Lebouc,  Jacqueline Selva,  Anne-Marie Boulley, 
  • Pages: 621-625
  • First Published: 1 June 1992

Letter to the Editor

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Lujan syndrome in a Mexican boy

H. Rivera,  M. L. Ramírez-Dueñas,  C. García-Ochoa, 
  • Pages: 626-627
  • First Published: 1 June 1992
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Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)

Hooshang Taybi M. D., 
  • Page: 628
  • First Published: 1 June 1992
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Reply to Dr. Taybi

Dr. Peter Meinecke,  Eberhard Passarge, 
  • Page: 629
  • First Published: 1 June 1992
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Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?

José Ignacio Rodríguez,  José Palacios,  Miguel Urioste,  José L. Rodríguez-Peralto, 
  • Pages: 630-631
  • First Published: 1 June 1992
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Response to Rodríguez et al. regarding tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?

Ruth Gershoni-Baruch, 
  • Page: 632
  • First Published: 1 June 1992
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Pseudotrisomy 13 syndrome

María Luisa Martínez-Frías,  Miguel Urioste,  Martin Martin,  Jaime L. Frías, 
  • Pages: 633-635
  • First Published: 1 June 1992
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Problems in the delineation of pseudotrisomy 13 syndrome: Reply to Drs. Norman, Donnai, Martínez-frías, Urioste, Martin, and Frías

Dr. M. Michael Cohen Jr.,  Robert J. Gorlin, 
  • Pages: 636-638
  • First Published: 1 June 1992
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Familial posterior helical ear pits

Laura L. Aughton M. D.,  David J. Aughton, 
  • Page: 639
  • First Published: 1 June 1992
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Reply to Drs. Aughton and Aughton

Dr. Lyle Best, 
  • Page: 640
  • First Published: 1 June 1992
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Familial atrial septal defect with prolonged atrioventricular conduction

Prof. Giuliano Bosi,  Alberto Sensi,  Elisa Calzolari,  Marco Scorrano, 
  • Page: 641
  • First Published: 1 June 1992

Articles

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New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease

Victoria M. Pratt,  James A. Trofatter,  Marianne B. Larsen,  M. E. Hodes,  Dr. Stephen R. Dlouhy, 
  • Pages: 642-646
  • First Published: 1 June 1992
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Pallister-Hall syndrome associated with an unbalanced chromosome translocation

Jeffrey A. Kuller MD,  Victoria A. Cox,  Steven A. Schonberg,  Mahin Golabi, 
  • Pages: 647-650
  • First Published: 1 June 1992