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

  • David Weyhe Smith
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.

    58/534 (page 32)
    A. Chromosomal Abnormality Syndromes 21q- SYNDROME (Antimongolism Syndrome, Long Arm 21 Deletion Syndrome) Downslanting Palpebral Fissure, Large Malformed External Ears, Micrognathia One other case has been reported since Le- jeune, et al.^ described this condition in 1964,^ and a third case has been studied by German.^ ABNORMALITIES Growth. Birth weight below 2.5 kg. Performance. Apparent mental deficiency and hypertonia. Fades. Blepharochalasis (redundant eyelids), broad nasal bridge, antimongoloid slanting of the palpebral fissures, prominent nasal bridge, large external ear with wide exter¬ nal auditory canal, and micrognathia. Hands. Dysplastic nails, distal axial triradii. Other. Hypospadias, pyloric stenosis, thrombo¬ cytopenia, retarded osseous maturation. OCCASIONAL ABNORMALITIES. Seizures; cataracts; absent helix, preauricular tags; cryp¬ torchidism; agenesis of the left kidney; inguinal hernia; hemivertebrae; syndactyly; increased iliac index; eosinophilia; increased leukocyte al¬ kaline phosphatase. NATURAL HISTORY. Usually severe mental, and moderate to severe growth deficiency. ETIOLOGY. The partial deletion of the long arm of the 21 chromosome has been of different extent in each of the cases, which may account for some of the variability in phenotypic expres¬ sion. Other cases have been mosaics with a 21 monosomy/normal cell admixture. REFERENCES 1. Lejeune, J., Berger, R., Réthoré, M., Archambault, L., Jerome, H., Thieffry, S., Aicardi, J., Broyer, M., Lafourcade, J., Cruveiller, J., and Turpin, R.: Monosomie partielle pour un petit acrocentrique. C. R. Acad. Sci. [D] (Paris), 259:4187, 1964. 2. Reisman, L. E.: Anti-mongolism. Studies in an in¬ fant with a partial monosomy of the 21 chromo¬ some. Lancet, i:394, 1966. 3. Greenwood, R. D., and Sommer, A.: Monosomy G: Case report and review of the literature. J. Med. Genet., 8:496, 1971. 32