Autosomal recessive form of whistling face syndrome in sibs

Abstract

Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

“…Temtany and McKusick [9] observed that FSS affected two generations of three different families. However, there are also reports of the syndrome suggesting an autosomal recessive inheritance; in other words, of affected children born to parents who were clinically normal but possible carriers (heterozygotic) of the gene responsible for the syndrome [10][11][12][13][14].…”

Progressive neurological deterioration in a child with distal arthrogryposis and whistling face

“…Their definition of a distal arthrogryposis is “an inherited primary limb malformation disorder characterised by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function”. Indeed in most of the reported cases intelligence was described as normal; this includes all cases with autosomal dominant inheritance6 13 14 and some of the cases with autosomal recessive inheritance 12…”

Freeman-Sheldon Syndrome A case report and review of the literature

“…Genetically speaking, this syndrome is described as autosomal dominant, but relatively recently autosomal recessive cases have been reported with a very severe clinical profile [1][2][3][4]; some cases have been described as the result of a genetic mutation [5][6][7][8][9]. The genetic variability, still not completely understood regarding the exact site and extent of the genetic alterations, explains the extreme phenotypical variability and therefore makes differential diagnosis difficult.…”

“…One radiographic characteristic is the deformity of the skull that appears to be square with a prevalence of the neurocranium with respect to the facial cranium; the occipital fossa appears deep-set, the occipital foramen is verticalized and oriented backwards [5][6][7][8][9][10][11][12][13][14][15]. Intelligence is generally normal, although cases have been reported of mental delay combined with EEG anomalies and cerebella and cortical atrophy as seen on the CT scan.…”