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

Abstract

A two-generation family is reported in which three members have Duane anomaly and distal limb abnormalities. All three affected have photopic electroretinogram responses that are abnormal or at the lower limit of the normal range with normal scotopic responses. Two affected family members also have hearing loss. The likeliest diagnosis is the syndrome listed as "arthrogryposis-ophthalmoplegia syndrome" on the London Dysmorphology Database or as "arthrogryposis with oculomotor limitation and electroretinal abnormalities" or "oculomelic aplasia" in OMIM [MIM 108145]. In view of the similarities with Okihiro syndrome, a search for mutations within the SALL4 gene was undertaken, but none were identified.

Juvenile macular dystrophy and forearm pronation‐supination restriction presenting with features of distal arthrogryposis type 5

“…Since the discovery of retinal involvement in DA5 [Lai et al, 1991], this finding has been observed in 9 out of 12 patients in whom this anomaly has been properly investigated by fundoscopy and/or electrophysiological studies. In light of published data and our findings, fundoscopic abnormalities are often limited to the macula and electroretinogram usually reveals abnormal scotopic responses without significant consequences on the visual acuity [Beals and Weleber, 2004;McCann et al, 2005]. In contrast, in more severely affected individuals, such as our index case, electroretinogram also demonstrates alterations of the photopic responses with marked visus reduction.…”

“…However, a wider range of eye features has been subsequently described and includes: blepharophimosis, epicanthic folds, Duane anomaly, blepharospasm, astigmatism, hypermetropia, keratoconus, microcornea, keratoglobus, corneal leukoma, glaucoma, electroretinogram anomalies, abnormal retinal/macular pigmentation, retinal folds in maculae, and dysplastic optic nerves [Zeiter and Boniuk, 1989;Lai et al, 1991;Schrander-Stumpel et al, 1993;Beals and Weleber, 2004;Sahni et al, 2004;McCann et al, 2005;Williams et al, 2007]. Since the discovery of retinal involvement in DA5 [Lai et al, 1991], this finding has been observed in 9 out of 12 patients in whom this anomaly has been properly investigated by fundoscopy and/or electrophysiological studies.…”

“…Recently, restrictive lung disease has been outlined as a DA5 prominent feature [Beals and Weleber, 2004;Williams et al, 2007]. This condition has been reported in at least 33 individuals from 14 pedigrees to date [Krieger and Espiritu, 1972;Sack, 1978;Hall et al, 1982;Zeiter and Boniuk, 1989;Lai et al, 1991;Schrander-Stumpel et al, 1993;Friedman and Heidenreich, 1995;Sahni et al, 2004;Beals and Weleber, 2004;McCann et al, 2005;Williams et al, 2007]. Although most patients show a well recognized phenotype, little is known about the full extent of the clinical presentation of DA5.…”

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and management

“…Contingent on local protocol or the presence of pregnancy complications, additional ultrasounds may be performed including a routine evaluation of fetal position, size, and fetal well‐being/biophysical profile in the third trimester. Ultrasound findings associated with AMC during each trimester of pregnancy are detailed in Table …”

Consil® bioactive glass particles enhance osteoblast proliferation and selectively modulate cell signaling pathways in vitro

“…Recently, restrictive lung disease has been outlined as a DA5 prominent feature [Beals and Weleber, 2004; Williams et al, 2007]. This condition has been reported in at least 33 individuals from 14 pedigrees to date [Krieger and Espiritu, 1972; Sack, 1978; Hall et al, 1982; Zeiter and Boniuk, 1989; Lai et al, 1991; Schrander‐Stumpel et al, 1993; Friedman and Heidenreich, 1995; Sahni et al, 2004; Beals and Weleber, 2004; McCann et al, 2005; Williams et al, 2007]. Although most patients show a well recognized phenotype, little is known about the full extent of the clinical presentation of DA5.…”