Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

Abstract

We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman‐Sheldon syndrome (FSS). This patient also presented severe hypertonicity, multiple episodes of pneumonia, difficulty in swallowing, and poor weight gain, which are characteristic of the most severe cases of FSS. A brain CT scan showed cerebellar and brainstem atrophy. Auditory brainstem responses were absent. The child died at 5 months of respiratory failure. This case suggests the possibility that, especially in the most severe forms, brain abnormalities may be responsible for some of the clinical manifestations of this syndrome, i.e., respiratory problems, difficulty in swallowing and severe hypertonicity. We assume that there is more than one pathogenetic mechanism (muscular, skeletal, and neurological) underlying FSS, which, together with the genetic heterogeneity and the wide range of clinical symptoms leads us to suggest that it is more appropriate to speak of a Freeman‐Sheldon spectrum rather than syndrome and that thorough investigation for CNS and auditory abnormalities should be part of the initial work‐up of these patients. © 1996 Wiley‐Liss, Inc.

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

“…Calcification was also found in skeletal muscles 9. Schrander-Stumpel et al ,20 Di Rocco et al ,21 Zampino et al ,22 and Hageman et al 27 reported other similar cases. Schrander-Stumpel et al 20 reported three unrelated patients who had distal arthrogryposis, severe developmental retardation, and a “whistling face” associated with the Pierre-Robin sequence.…”

“…Schrander-Stumpel et al 20 reported three unrelated patients who had distal arthrogryposis, severe developmental retardation, and a “whistling face” associated with the Pierre-Robin sequence. Zampino et al 22 described a sporadic case of the whistling face syndrome in a boy who also had severe hypertonia, swallowing problems, poor weight gain, and cerebellar and brain stem atrophy. They suggested that primary brain anomalies may explain many of the syndrome's manifestations.…”

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

“…Although family 2 presents with a carpotarsal coalition that has not been described by Chong et al, 18 the important overlapping symptomatology and the fact that both carpal and tarsal fusions have been reported previously in families affected by dominantly inherited MPS indicate that this family has MPS rather than SCT. [20][21][22] Although hearing loss has been reported in several studies related to DA2A 14,24 and MPS, 25 to our knowledge this feature was never associated with underlying MYH3 mutations. Altogether, these observations indicate that MYH3 mutations cause a spectrum of diseases including DA, MPS and SCT.…”

Forma recessiva da síndrome de Freeman-Sheldon: relato de dois irmãos afetados

“…Na família por nós aqui descrita, apesar de seguir um padrão de herança autossômico recessivo, não existem evidências de um comprometimento neurológico ou de déficit auditivo neurossensorial até o presente momento. Zampino et al 20 também descreveram um caso esporádico da SFS em um menino com hipertonicidade acentuada, disfagia, e atrofia cerebelar e do tronco cerebral, além de perda auditiva associada. Estes autores sugeriram que anomalias cerebrais primárias poderiam explicar várias manifestações da síndrome.…”