Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

Abstract

We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al.[(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.

Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome

“…1 of Al-Gazali et al, 2003]. The radiological symptoms in the patient described by Accorsi et al [2003] are in accordance with the findings in young patients with Stü ve-Wiedemann syndrome.…”

“…In our opinion especially the resemblance with Stü ve-Wiedemann syndrome is important [Al-Gazali et al, 2003]. Major characteristics of this entity are progressive and severe bowing of long bones, camptodactyly, temperature instability, but also intermittent cyanotic spells Fig.…”

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

“…Most children die in the first year of life. However, if they survive they develop progressive spinal deformity associated with insensitivity to pain leading to self-mutilating behavior and corneal scarring [Al-Gazali et al, 2003d]. This syndrome is common in certain tribes in the UAE population, and 40 cases from 25 families have been evaluated [Al-Gazali et al, 1996a;unpublished data].…”

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

“…10,13 Clinical features of SWS also include camptodactyly, feeding difficulties, scoliosis and temperature instability, also present in the other syndromes, but the characteristic bowing of the long bones is not present in CS, CISS1 and CISS2. [14][15][16][17][18][19] Clinical similarities between Crisponi syndrome and cold-induced sweating syndrome type 1, along with the involvement of the same gene (CRLF1), led to the question whether these two syndromes represent two allelic diseases or, in fact, manifestations of the same disorder, reported at different ages of affected patients. 1,2 In an effort to delineate the specific clinical features attributed to CS and CISS1, we investigated the clinical history, physical characteristics and experimental data of 19 patients with mutations in CRLF1, 14 of them classified as CS (9 reported and 5 unreported cases) and 5 as CISS1 (all reported), [9][10][11] by means of a standardized questionnaire.…”