Alternative titles; symbols
SNOMEDCT: 789777007; ORPHA: 935;
McKusick and Cross (1966) described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy.
Davis (1967) stated that at least 5 such cases were known to him. The case he personally described was a female infant whose parents were Jewish but not known to be related. The child died at 2 months of age.
Gatti et al. (1969) described affected brother and sister who also had ectodermal dysplasia. They suggested that other cases had been reported by McKusick and Cross (1966), Davis (1966), Fulginiti et al. (1967), and Alexander and Dunbar (1968). Say et al. (1972) reported 2 affected Turkish sibs. The skeletal dysplasia in these cases may be best classified as a metaphyseal chondrodysplasia.
McKusick (1972) described a family studied by Mathies (1972) in which the skeletal changes were typical of cartilage-hair hypoplasia (250250) including 'metaphyseal dysostosis' by x-ray, excessively long fibulas, Harrison grooves, etc. The hair was light in color and required cutting less often than one would expect but its caliber appeared normal. All 3 children were affected. The oldest had secondary vaccinia after routine vaccination and was reported by Fulginiti et al. (1968)--see their case M.N., p. 135. Main laboratory findings are lymphopenia, agammaglobulinemia, and, by x-ray, thymic hypoplasia. These findings and the clinical course are similar to those in severe combined immunodeficiency (see 601457). McKusick (1972) noted that some patients with severe combined immunodeficiency and short-limb skeletal dysplasia had been found to have deficiency of adenosine deaminase (see 102700).
MacDermot et al. (1991) reported 2 unrelated patients with severe combined immunodeficiency and early lethal short-limb skeletal dysplasia. These 2 patients did not have determinations of adenosine deaminase, nor did the cases of severe skeletal dysplasia in association with SCID previously reported. MacDermot et al. (1991) noted that the metaphyseal abnormalities have been mild in cases of SCID with ADA deficiency.
Mandi et al. (1971) found a profound disturbance in endochondral ossification in albino rats thymectomized 36 to 48 hours after birth. Other manifestations of runting were present.
Alexander, W. J., Dunbar, J. S. Unusual bone changes in thymic alymphoplasia. Ann. Radiol. 11: 389-394, 1968. [PubMed: 5678781]
Ammann, A. J., Sutliff, W., Millinchick, E. Antibody-mediated immunodeficiency in short-limbed dwarfism. J. Pediat. 84: 200-203, 1974. [PubMed: 4810726] [Full Text: https://doi.org/10.1016/s0022-3476(74)80601-3]
Davis, J. A. A case of Swiss-type agammaglobulinaemia and achondroplasia. Brit. Med. J. 2: 1371-1374, 1966.
Davis, J. A. Swiss-type agammaglobulinaemia and achondroplasia. (Letter) Brit. Med. J. 3: 110 only, 1967.
Fulginiti, V. A., Hathaway, W. E., Pearlman, D. S., Kempe, C. H. Agammaglobulinaemia and achondroplasia. (Letter) Brit. Med. J. 2: 242 only, 1967.
Fulginiti, V. A., Kempe, C. H., Hathaway, W. E., Pearlman, D. S., Sieber, O. F., Jr., Eller, J. J., Joyner, J. J., Robinson, A. Immunologic Deficiency Diseases in Man. Birth Defects Orig. Art. Ser. IV(1): 129-151, 1968.
Gatti, R. A., Platt, N., Pomerance, H. H., Hong, R., Langer, L. O., Kay, H. E. M., Good, R. A. Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J. Pediat. 75: 675-684, 1969. [PubMed: 5809843] [Full Text: https://doi.org/10.1016/s0022-3476(69)80465-8]
MacDermot, K. D., Winter, R. M., Wigglesworth, J. S., Strobel, S. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. J. Med. Genet. 28: 10-17, 1991. [PubMed: 1999827] [Full Text: https://doi.org/10.1136/jmg.28.1.10]
Mandi, B., Hadhazy, C., Mandi, A., Glant, T. Effect of postnatal thymectomy on enchondral ossification. Acta Morph. Acad. Sci. Hung. 19: 259-268, 1971.
Mathies, A. W. Personal Communication. Los Angeles, Calif. 1972.
McKusick, V. A., Cross, H. E. Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanisms in related Amish sibships. JAMA 195: 739-745, 1966. [PubMed: 5951879] [Full Text: https://doi.org/10.1001/jama.195.9.739]
McKusick, V. A. Personal Communication. Baltimore, Md. 1972.
Say, B., Tinaztepe, B., Tinaztepe, K. Thymic dysplasia associated with dyschondroplasia in an infant. Am. J. Dis. Child. 123: 240-244, 1972. [PubMed: 5026207] [Full Text: https://doi.org/10.1001/archpedi.1972.02110090110017]