Co-existence of Dubowitz and hyper-IgE syndromes: a case report. 1996

K Antoniades, and M Hatzistilianou, and G Pitsavas, and C Agouridaki, and F Athanassiadou
Oral and Maxillofacial Surgery Department, Aristotle University of Thessaloniki, Greece.

A case of a 5-year-old girl is described whose clinical features included postnatal growth retardation, microcephaly and characteristic facial appearance. These are recognized as the main features of the Dubowitz syndrome. Apart from these features, our patient had recurrent infections of the sinopulmonary tract, high serum IgE levels, defective chemotaxis of polymorphonuclear cells and defective antibody response, findings characterizing the hyper-IgE syndrome. The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature. CONCLUSIONS Patients with the Dubowitz syndrome will Dubowitz syndrome will require long-term follow up because there is a considerable risk for the syndrome to co-exist with primary immunodeficiency or for malignancies to develop.

UI MeSH Term Description Entries
D007073 Immunoglobulin E An immunoglobulin associated with MAST CELLS. Overexpression has been associated with allergic hypersensitivity (HYPERSENSITIVITY, IMMEDIATE). IgE
D007160 Immunoproliferative Disorders Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. Disorder, Immunoproliferative,Disorders, Immunoproliferative,Immunoproliferative Disorder
D008831 Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004485 Eczema A dermatitis characterized by a spongiotic tissue reaction pattern occurring as a reaction to many endogenous and exogenous agents. Dermatitis, Eczematous,Eczematous Dermatitis
D005260 Female Females
D006130 Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D019066 Facies The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

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