Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

Abstract

Stüve‐Wiedemann osteochondrodysplasia is a rare disorder with distinct clinical and diagnostic radiographic findings. The condition is classified as a bent‐bone dysplasia with early, lethal outcome. We report on a boy with Stüve‐Wiedemann syndrome who is well and alive at the age of 3 1/2 years. © 1996 Wiley‐Liss, Inc.

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

“…At birth, trismus was noted in four cases (1,2,4,9), but gradually disappeared with time. In four patients (cases 2, 4, 5 and 7), bronchospasm episodes have persisted, sometimes triggered by hot or cold temperatures (case 7).…”

“…Twelve cases with prolonged survival have been published, the oldest being 16 years old (4)(5)(6)(7)(8)(10)(11)(12)(13). To our knowledge the existence of LIFR mutations is documented for six of them (6)(7)(8)10).…”

“…To accurately compare the clinical outcome of all the patients, we have focused our study only on patients who have survived beyond three years of age (age range: [3][4][5][6][7][8][9][10][11][12][13][14]. Criteria for inclusion were: (i) Criteria for inclusion were characteristic symptoms of SWS including bowed and short lower limbs, internal cortical thickening, wide metaphyses, dysautonomia symptoms.…”

Ocular Treatment of Children With Stuve–Wiedemann Syndrome

“…2 Patients present in the neonatal period or later with feeding difficulties, recurrent chest infections, spontaneous fractures, unexplained episodes of hyperthermia, and paradoxical sweating/shivering. 3 Absent corneal reflexes, decreased blink reflexes, and corneal opacities are recognized features of this syndrome with poor visual outcome being reported. 4,5 Only 1 earlier report described a case of a long-term survivor who had no corneal reflexes but normal tearing and good vision, but this case also described mosaicism.…”

Developments in the Orthopaedic Management of Children With Stüve-Wiedemann Syndrome: Use of the Fassier-Duval Telescopic Rod to Maintain Correction of Deformity

“…[3][4][5] Other characteristic features include autonomic dysregulation with episodes of hyperthermia, and respiratory and swallowing difficulties. 3,12,13 The syndrome is frequently fatal in infancy, although more recent reports have described longer-term survival in patients, 8,[14][15][16][17] permitting better understanding of the natural history. 6 Stu¨ve-Wiedemann was historically also referred to as Schwartz-Jampel syndrome type 2, although the 2 syndromes were later found to be genetically and phenotypically indistinguishable.…”