Orthopaedic Manifestations in de Barsy Syndrome

De Barsy syndrome: a review of the phenotype

“…They described a 2-year-old child with cutis laxa, a progeria-like appearance and oligophrenia. Since their initial report approximately 28 further cases have been reported, including the current case (Wiedemann, 1969;Hoefnagel et al, 1971;Burck, 1974;Goecke et al, 1980;Bartsocas et al, 1982;Kunze et al, 1985;Rochels and Beck, 1985;Pontz et al, 1986;Seidel et al, 1987;Hall, 1987;Hoekx et al, 1989;Morris and Clark, 1990;Karnes et al, 1992;Stanton et al, 1994;Schierenberg et al, 1994;Jukkola et al, 1998;Arazi et al, 2001;Aldave et al, 2001;Guerra et al, 2004;Sznajer et al, 2004). In some cases, only an abstract was published or the data were incomplete; however, as much information as was available is presented here.…”

“…Parental consanguinity was present in 11 cases (nine families) (Bartsocas et al, 1982;Rochels and Beck, 1985;Pontz et al, 1986;Seidel et al, 1987;Hoekx et al, 1989;Stanton et al, 1994;Arazi et al, 2001;Sznajer et al, 2004) including our patient, and there have also been four families (two with no consanguinity) with two or more affected siblings described (Wiedemann, 1969;Kunze et al, 1985;Seidel et al, 1987;Stanton et al, 1994). This has led to the assumption that de Barsy syndrome is inherited as an autosomal recessive condition.…”

“…The majority of cases also have neurological and orthopaedic abnormalities. The syndrome was first described by de Barsy et al in 1967 and since then approximately 27 further cases have been reported (Wiedemann, 1969;Hoefnagel et al, 1971;Burck, 1974;Goecke et al, 1980;Bartsocas et al, 1982;Kunze et al, 1985;Rochels and Beck, 1985;Pontz et al, 1986;Seidel et al, 1987;Hall, 1987;Hoekx et al, 1989;Morris and Clark, 1990;Karnes et al, 1992;Stanton et al, 1994;Schierenberg et al, 1994;Jukkola et al, 1998;Arazi et al, 2001;Aldave et al, 2001;Guerra et al, 2004;Sznajer et al, 2004). We describe a further case, to our knowledge the first reported case from the UK and the first in someone of Pakistani origin, which demonstrates the typical clinical and histological features, and we present a comprehensive review of the published literature.…”

Cutis laxa: A review

“…52 Distinguishing features include bilateral corneal opacification, progeroid appearance, reduced subcutaneous fat, and athetoid movements early in life. [52][53][54][55][56][57][58][59] Etiology. Although the genetic cause of DBS remains poorly defined, several publications identifying ATP6V0A2 and PYCR1 mutations in ARCL may have included some patients with DBS.…”

Die Behandlung des Talus verticalis mit der Methode nach Dobbs

“…Barsy-Syndrom, das Costello-Syndrom aber auch bei Patienten mit einer Spalthand und oder einem Spaltfuß. Chromosomale Aberrationen, welche mit dem Talus verticalis assoziiert sind, sind die Trisomie 13, 15 und 18[13,14]. Konzept von Dobbs bis auf die Nachbehandlung originalgetreu umgesetzt.…”