A familial syndrome of dwarfism, bilateral club feet, premature aging and progressive panhypogammaglobulinemia.
We describe a 47-year-old woman with an unusual combination of clinical signs and symptoms: short stature, oldish appearance with distinct craniofacial stigmata, talipes equinovari with adduction position of the forefeet, subluxations of the interphalangeal joints of hands and toes, carpal synostosis and progressive panhypogammaglobulinemia. Partial expression of the syndrome could be documented in different members of this family over 5 generations. Among the different possible differential diagnoses, the possibility of a variant example of Larsen syndrome is discussed.
Lenaerts
J
J
Arthritis and Metabolic Bone Disease Research Unit, KU Leuven, Belgium.
Fryns
J P
JP
Westhovens
R
R
Dequeker
J
J
D000015:Abnormalities, Multiple; D000361:Agammaglobulinemia / Q000150:complications*; D003025:Clubfoot / Q000235:genetics / Q000473:pathology*; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011371:Progeria / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D013577:Syndrome