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, 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.
Mégarbané
André
A
Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Paris, France. megarban@dm.net.lb
Sanders
Agnès
A
Chouery
Eliane
E
Delague
Valérie
V
Medlej-Hashim
Myrna
M
Torbey
Paul-Henri
PH
D000015:Abnormalities, Multiple / Q000473:pathology*; D001168:Arthritis / Q000473:pathology*; D001827:Body Height; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology*; D004487:Edema / Q000473:pathology; D005335:Fever of Unknown Origin / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D009915:Orbit; D010146:Pain / Q000473:pathology; D040521:Subcutaneous Tissue / Q000473:pathology