A new form of autosomal dominant arthrogryposis.

Abstract

We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

“…Other common features include firm muscles, ptosis, clubfeet, and scoliosis (Table II). Pigmentary maculopathy, which was present in members of our family, has been previously reported [Lai et al, 1991;Schrander-Stumpel et al, 1993]. Keratoconus was reported by Hall et al [1982].…”

“…Friedman and Heidenreich [1995] provided follow-up on this patient at age 63 and his son at age 30 and further characterized the findings to include, in addition to ptosis, limitations of extraocular movements. Other cases have been described by Krieger and Espiritu [1972], Sack [1978], Lai et al [1991], Hall et al [1982], and Schrander-Stumpel et al [1993]. Bamshad et al [1996] indicated that they had diagnosed 12 individuals in seven families.…”

“…Bamshad et al [1996] indicated that they had diagnosed 12 individuals in seven families. The kindred described by Lai et al [1991] had father-to-son transmission indicating autosomal dominant inheritance. Each of the families described in the literature has in common limited ocular motility, presumably from ocular muscle fibrosis, and peripheral contractures.…”

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

“…This was initially described by Lai et al [1991], in a father and son with a further case report by Schrander-Stumpel et al [1993] in a 17-year-old male. The features of all cases are shown in Table I.…”

Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB

“…Our patients present strabismus (Brown syndrome) and palpebral ptosis, both found in many patients with distal arthrogryposis and associated in some cases (but not in patients 2 and 3) with ERG anomalies [Lai et al, 1991;Schrander-Stumpel et al, 1993a].…”