Recognizable patterns of human malformation : genetic, embryologic, and clinical aspects / by David W. Smith.

  • Smith, David W., 1926-1981.
Date:
1976
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Recognizable patterns of human malformation : genetic, embryologic, and clinical aspects / by David W. Smith. Source: Wellcome Collection.

    195/534 (page 169)
    I. Limb Defect as Major Component LIMB REDUCTION-ICHTHYOSIS SYNDROME Unilateral Hypomelia and Skin Hypoplasia, Cardiac Defect Falek, et al.' reported two female siblings with this unique unilateral pattern of malforma¬ tion in 1968 and Shear - noted a comparable case. ABNORMALITIES. Unilateral. Growth. Mild prenatal growth deficiency. Limbs. Moderate to severe hypomelia of limbs, +/— absent scapula and diminished ribs, webbed elbow and knee. Skin. Thin, immature, slightly scaling skin on one side with sharp midline demarcation anteriorly. Cardiac. Partial to complete absence of cardiac septum with valve defects, +/— truncus ar¬ teriosus. Other. Absence of pectoralis major muscle. NATURAL HISTORY. Falek's patients died within several days after birth, apparently sec¬ ondary to the cardiac defect. Shear's case sur¬ vived and is mentally deficient. ETIOLOGY. Unknown. The occurrence in sib¬ lings of normal parentage raises the question of autosomal recessive inheritance. COMMENT. The striking left-sided asym¬ metry of expression in this disorder is unex¬ plained but strongly suggests a very early asym¬ metric differential sensitivity toward the dysmorphogenic influence. The nature of the skeletal, skin, and heart defects indicates a very early problem in morphogenesis. If this defect were bilateral, it might well be an early prena¬ tal lethal; hence it might only be seen as a uni¬ lateral occurrence. REFERENCES 1. Falek, A., Heath, C. W., Ebbin, A. J., and McLean, W. R.: Unilateral limb and skin deformities with congenital heart disease in twin siblings. A lethal syndrome. J. Pediatr., 73:910, 1968. 2. Carol Shear, M.D. Personal communication. 1968.) One of two affected siblings, both with left-sided involvement. (From Falek, A., et al.: J. Pediatr., 73:910, 169