Table of contents

Research Article

• Norrie disease resulting from a gene deletion: clinical features and DNA studies. (1 February, 1988)

  D Donnai, R C Mountford, A P Read
• Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues. (1 February, 1988)

  A Curtis, L Strain, M Mennie, D J Brock
• Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. (1 February, 1988)

  F J Bamforth, N A Kalsheker
• Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. (1 February, 1988)

  M L Merrer, M L Briard, S Girard, N Mulliez, C Moraine, M C Imbert
• An autosomal dominant multiple pterygium syndrome. (1 February, 1988)

  C M McKeown, R Harris
• A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. (1 February, 1988)

  U G Froster-Iskenius, J R Waterson, J G Hall
• Familial ectopic ossification. (1 February, 1988)

  R J Gardner, K Yun, S M Craw
• A combinatorial method for grouping cases with multiple malformations. (1 February, 1988)

  R M Winter, R D Clark, K Ashley, G Gibbs
• Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34. (1 February, 1988)

  C G Keith, G C Webb, J G Rogers
• Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). (1 February, 1988)

  G C Webb, C G Keith, N T Campbell
• Craniofrontonasal dysplasia. (1 February, 1988)

  J Hurst, M Baraitser
• Ectrodactyly in sisters and half sisters. (1 February, 1988)

  R C Hennekam, E J Lommen
• Fryns syndrome. (1 February, 1988)

  N Fitch
• Alpha 1 antitrypsin deficiency. (1 February, 1988)

  D J Harris
• Possible evidence for genetic predisposition to nondisjunction in man. (1 February, 1988)

  T I Farag, A S Teebi