Extending the spectrum of distal arthrogryposis

Abstract

We describe a mother and son with multiple, non‐progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal‐recessive Schwartz‐Jampel and Marden‐Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz‐Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significant overlap between the different syndromes. © 1996 Wiley‐Liss, Inc.

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

“…248700]), [12][13][14] distal arthrogryposis type 5 (DA5 [MIM 108145]), 13,14 and Schwartz-Jampel (MIM 255800). 13 Furthermore, in the absence of cleft palate, GS can be virtually indistinguishable from distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B (DA2B [MIM 601680]).…”

“…248700]), [12][13][14] distal arthrogryposis type 5 (DA5 [MIM 108145]), 13,14 and Schwartz-Jampel (MIM 255800). 13 Furthermore, in the absence of cleft palate, GS can be virtually indistinguishable from distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B (DA2B [MIM 601680]). Accordingly, Bamshad et al categorized GS as distal arthrogryposis type 3 (DA3) in the revised classification of distal arthrogryposis (DA) syndromes but questioned whether GS was an etiologically distinct syndrome.…”

Spine Deformities in Rare Congenital Syndromes

“…58 The numerous Type II subtypes have the addition of facial abnormalities and may be associated with scoliosis. 59 Differential diagnosis includes Freeman-Sheldon syndrome, multiple pterygium syndrome, Beal syndrome, and other conditions with joint contracture.…”