{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:06:51Z","timestamp":1764493611663,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:p>Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1\/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised.<\/jats:p>","DOI":"10.1136\/jmg.23.4.355","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"355-359","source":"Crossref","is-referenced-by-count":24,"title":["Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers."],"prefix":"10.1136","volume":"23","author":[{"given":"B","family":"Say","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Barber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G C","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S E","family":"Grogg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,8,1]]},"reference":[{"issue":"4","key":"ref_1","first-page":"116","article-title":"Congenital absence of thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism","volume":"1968","author":"DiGeorge, A.M.","unstructured":"DiGeorge AM. Congenital absence of thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects 1968;4:116-21.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1177\/000348947808700103","article-title":"Ear anomalies associated with renal dysplasia and immunodeficiency disease","volume":"87","author":"Lindsay, JR, Hinojosa; R.","year":"1978","unstructured":"Lindsay JR, Hinojosa R. Ear anomalies associated with renal dysplasia and immunodeficiency disease. Ann Otol Rhinol Laryngol 1978;87: 10-7.","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/S0022-3476(69)80465-8","article-title":"Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia","volume":"75","author":"Gatti, R.A.; Platt, N.; Pomerance, H.H.","year":"1969","unstructured":"Gatti RA, Platt N, Pomerance HH, et al. Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J Pediatr 1969;75:675-84.","journal-title":"J Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/S0022-3476(78)81120-2","article-title":"Deficiency of humoral immunity and hypoparathyroidism associated with the Hallerman-Strieff syndrome","volume":"93","author":"Chandra, R.K.; Joglekar, S.; Antonio, Z.","year":"1978","unstructured":"Chandra RK, Joglekar S, Antonio Z. Deficiency of humoral immunity and hypoparathyroidism associated with the Hallerman-Strieff syndrome. J Pediatr 1978;93:892-3.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0022-3476(79)80186-9","article-title":"Association of birth defects and immunodeficiency","volume":"94","author":"Say, B.; Miller, G.C.; Barber, N.","year":"1979","unstructured":"Say B, Miller GC, Barber N, et al. Association of birth defects and immunodeficiency. J Pediatr 1979;94:849-50.","journal-title":"J Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1097\/00007611-198201000-00005","article-title":"Immunodeficiency in children with severe craniofacial anomalies","volume":"75","author":"Miller, G.C.; Say, B.","year":"1982","unstructured":"Miller GC, Say B. Immunodeficiency in children with severe craniofacial anomalies. South Med J 1982;75:14-9.","journal-title":"South Med J"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0022-3476(78)80417-X","article-title":"Transient hypogammaglobulinemia of infancy: review of the literature, clinical and immunologic features of 11 new cases and long-term follow-up","volume":"92","author":"Tiller, T.L.; Buckley, R.H.","year":"1978","unstructured":"Tiller TL, Buckley RH. Transient hypogammaglobulinemia of infancy: review of the literature, clinical and immunologic features of 11 new cases and long-term follow-up. J Pediatr 1978;92:347-53.","journal-title":"J Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.4.355","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:21:53Z","timestamp":1760732513000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.4.355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1986,8,1]]},"published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1136\/jmg.23.4.355"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.4.355","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}