Abstract
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.
References
Jan 1, 1978·The Annals of Otology, Rhinology, and Laryngology·J R Lindsay, R Hinojosa
May 1, 1979·The Journal of Pediatrics·B SayS Grogg
Mar 1, 1978·The Journal of Pediatrics·T L Tiller, R H Buckley
Nov 1, 1978·The Journal of Pediatrics·R K ChandraZ Antonio
Oct 1, 1969·The Journal of Pediatrics·R A GattiR A Good
Jan 1, 1982·Southern Medical Journal·G C Miller, B Say
Citations
Mar 25, 2000·Clinical Genetics·N J CarpenterB Say
Sep 1, 1991·Journal of Medical Genetics·I M WinshipM M De Moor
Mar 1, 1996·Journal of Medical Genetics·C PerandonesO H Pivetta
Jul 18, 2006·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Hamid El-SawyAubu Anbarasu
Sep 7, 2005·Clinical Genetics·E M H F BongersN V A M Knoers
Feb 12, 2009·American Journal of Medical Genetics. Part a·Maila PenttinenMarja Hietala
Nov 14, 2000·American Journal of Medical Genetics·E E AddersonH R Hill
Jan 24, 2015·Clinical Case Reports·Kenichi SugaKazuhiro Mori
May 13, 2006·American Journal of Medical Genetics. Part a·Yanick Joseph CrowA R Gennery
Jan 1, 1988·American Journal of Medical Genetics. Supplement·M M Cohen
Mar 1, 1989·American Journal of Medical Genetics·R D TaalmanJ M Scheres
Jul 1, 1991·American Journal of Medical Genetics·G BarbiH Seyschab
Jan 8, 2004·Critical Reviews in Clinical Laboratory Sciences·Jeffrey E MingJohn M Graham
Jan 1, 2016·JA Clinical Reports·Eisuke HamaguchiKatsuya Tanaka
Jul 7, 2017·Clinical Case Reports·Mulakkan David YohannanKatlin Allsbrook
Dec 26, 2008·Revue neurologique·I KechaouN Gouider-Khouja