Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers.
We describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg-Perthes-Calvé type "disease" of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X-linked recessive or an autosomal dominant condition with germinal mosaicism.
Children's Hospital, Helsinki, Finland.
J A
JA
Leipälä
I
I
Kaitila
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities*; D008297:Male; D013577:Syndrome