Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

“…Comparison of the clinical findings of our case with clinical characteristics of 24 patients described with this condition ( table 1 ) [van den Ende et al, 1992;Bistritzer et al, 1993;Gupta et al, 1995;Phadke et al, 1998;Schweitzer et al, 2003;Guerra et al, 2005;Carr et al, 2007;Leal and Silva 2009;Ali et al, 2010;Anastasio et al, 2010] confirms considerable overlap of our case with the published patients with VDEGS, particularly the facial appearance and the arachnocamptodactyly. The most common anomalies are indeed arachnodactyly, camptodactyly, an unusual facial appearance with blepharophimosis, beaked nose, malar hypoplasia, everted lips, and prominent ears.…”

“…VDEGS has been generally considered to be an autosomal recessive entity, given that 3 affected individuals from different families were born to normal and consanguineous parents [van den Ende et al, 1992;Bistritzer et al, 1993;Gupta et al, 1995]. The identification of homozygous mutations in the SCARF2 gene as the underlying cause reported by Anastasio et al [2010] in VDEGS patients from 3 consanguineous families further supports the conclusion that VDEGS is an autosomal recessive entity.…”

Novel findings in the Marden-Walker syndrome

“…Reports in the literature describe sporadic cases. A similar entity with blepharophimosis, arachnodactyly, and congenital contractures was delineated by van den Ende et al [4] and Gupta et al [5].…”

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

“…Van Den Ende-Gupta syndrome (VDEGS; MIM 600920) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial and skeletal manifestations. It was first delineated by van den Ende et al and Gupta et al 1,2 To date, only 14 patients from nine families have been described. [1][2][3][4][5][6][7] Inheritance is likely autosomal recessive, which is supported by consanguinity of affected matings, the recurrence of the disorder among the offspring of unaffected couples, and equal sex involvement.…”

“…It was first delineated by van den Ende et al and Gupta et al 1,2 To date, only 14 patients from nine families have been described. [1][2][3][4][5][6][7] Inheritance is likely autosomal recessive, which is supported by consanguinity of affected matings, the recurrence of the disorder among the offspring of unaffected couples, and equal sex involvement. 2,7 It is characterized by craniofacial abnormalities that include blepharophimosis, a flat and wide nasal bridge, malar and/or maxillary hypoplasia, prominent ears, a narrow and beaked nose, an everted lower lip, palatal abnormalities, and down-slanting eyes.…”