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.

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    I. Limb Defect as Major Component —with Hematopoietic Problem RADIAL APLASIA-THROMBOCYTOPENIA SYNDROME Gross, Groh, and WeippP described this en¬ tity in siblings in 1956; subsequently over 20 cases have been reported. ABNORMALITIES Hematologic. Most severe in early infancy. Thrombocytopenia with absence or hypoplasia of megakaryocytes (absent in 66 per cent, decreased in 12 per cent, inactive in 12 per cent). Leukemoid granulocytosis in 62 per cent of cases, especially during bleeding episodes. Eosinophilia in 53 per cent. Anemia, often out of proportion to apparent blood loss. Absence or Hypoplasia of Radius. Usually bi¬ lateral; often with associated ulnar hypopla¬ sia and defects of the hand, legs, and/or feet. However, the thumbs are present. OCCASIONAL ABNORMALITIES. About 25 per cent have a congenital heart defect. Small stature, nevus flameus of forehead, genu varum, renal anomaly, and spina bifida, brachycephaly, strabismus, micrognathia, syndactyly, short hu¬ merus, hypoplastic shoulder girdle, dislocation of the hip, talipes foot deformity and Meckel's di¬ verticulum. One patient developed leukemia, in¬ dicating that this unstable hematologic disorder may predispose toward development of leuke¬ mia. NATURAL HISTORY. About 40 per cent of the patients have expired, usually as a result of hemorrhage during early infancy. With advanc¬ ing age the severity of the hematological dis¬ order usually becomes less profound, and there¬ fore vigorous early management is indicated. Hydrocortisone analogue therapy, though it may lessen the likelihood of hemorrhage, has not had a consistently beneficial effect on the thrombocy¬ topenia. ETIOLOGY. Autosomal recessive. Of interest is the fact that an uncle of one patient died of leukemia. REFERENCES 1. Gross, H., Groh, C., and Weippl, G.: Congenitale hypoplastische Thrombopenie mit Radialaplasie. Neue Osterr. Z. Kinderheilkhd., i:574, 1956. 2. Shaw, S., and Oliver, R. A. M.: Congenital hypo¬ plastic thrombocytopenia with skeletal deformi¬ ties in siblings. Blood, 14:374, 1956. 3. Hunter, R.: Congenital megakaryocytic hypoplasia with radial aplasia. Personal communication. A, Same patient as infant and young boy. B, Young infant with serious bleeding and hepatosplenomegaly. Patient also had a cardiac defect. (Courtesy of J. M. Opitz, University of Wisconsin, and R. Hunter, University of Washington.) 176