An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy

A young boy from nonconsanguineous Palestinian parents presented with short stature, motor developmental delay, wide nasal bridge, bilateral periorbital edema, everted lower lip, brachydactyly, large interphalangeal articulations, drumstick extremities of the fingers, bilateral simian crease, clinod...

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Bibliographic Details
Published inJournal of rheumatology Vol. 29; no. 5; p. 1084
Main Authors Mégarbané, André, Sanders, Agnès, Chouery, Eliane, Delague, Valérie, Medlej-Hashim, Myrna, Torbey, Paul-Henri
Format Journal Article
LanguageEnglish
Published Canada 01.05.2002
Subjects
Abnormalities, Multiple - pathology
Arthritis - pathology
Body Height
Child
Developmental Disabilities - pathology
Edema - pathology
Fever of Unknown Origin - pathology
Fingers - abnormalities
Humans
Male
Orbit
Pain - pathology
Subcutaneous Tissue - pathology
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Summary:A young boy from nonconsanguineous Palestinian parents presented with short stature, motor developmental delay, wide nasal bridge, bilateral periorbital edema, everted lower lip, brachydactyly, large interphalangeal articulations, drumstick extremities of the fingers, bilateral simian crease, clinodactyly of the 5th fingers, painful joints, subcutaneous nodules all over his body and recurrent episodes of fever of unknown origin. Differential diagnoses such as the hyperimmunoglobulinemia D syndrome, tumor necrosis factor receptor associated periodic syndrome (TRAPS), the chronic infantile neurological cutaneous and articular (CINCA) syndrome, and the newly recognized nodulosis, arthropathy, and osteolysis (NAO) syndrome are discussed. This syndrome may not have been previously reported.
ISSN:0315-162X