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

Jung, Camille; Dagoneau, Nathalie; Baujat, Geneviève; Merrer, Martine Le; David, Alessia; Rocco, Maja Di; Hamel, B.C.J.; Mégarbané, André; Superti‐Furga, Andrea; Unger, Sheila; Münnich, Arnold; Cormier‐Daire, Valérie

doi:10.1111/j.1399-0004.2009.01314.x

Cited by 32 publications

(68 citation statements)

References 30 publications

(66 reference statements)

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“…In the presence of bowing of the long bones, the pediatric manifestation would lead to Stüve-Wiedemann syndrome. 28 In the absence of bowing of the long bones, on the basis of our findings, we believe that the two syndromes, CS and CISS1, represent manifestations of one disorder, with different degrees of severity. The rare cases of CISS1 most likely correspond to CS survivors.…”

Section: Classification According To the Biochemical Characteristics supporting

confidence: 53%

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

et al. 2011

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Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.

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Section: Classification According To the Biochemical Characteristics supporting

confidence: 53%

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

et al. 2011

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“…Very few patients survive beyond 1 year. The latter are differentiated from surviving CD cases by the presence of short and bowed long bones with internal cortical thickening, wide metaphyses, abnormal trabecular pattern, normal scapulae, prominent joints, restricted joint mobility, osteoporosis, spontaneous fractures, and temperature instability, altered sweating, dental abnormalities, hyporeflexia and smooth tongue [Jung et al, 2010]. Kyphomelic dysplasia (OMIM 211350) is also characterized by bowing of the long bones.…”

Section: Discussionmentioning

confidence: 99%

Mild Campomelic Dysplasia: Report on a Case and Review

et al. 2010

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while in other populations a birth prevalence of 1 in 200,000 has been estimated [Mansour et al., 1995]. Most cases are due to mutations in the SOX9 gene -a member of the SOX (SRY-related HMG box) gene family -located on 17q23-qter, which plays a role in chondrogenesis and sex determination [Foster et al., 1994;Wagner et al., 1994]. In few patients, chromosomal rearrangements involving the cis-regulatory elements upstream of the gene and deletions upstream of SOX9 have also been reported [Wirth et al., 1996;Pop et al., 2005;Leipoldt et al., 2007;Lecointre et al., 2009].This skeletal dysplasia is characterized by bowing of the femur and tibia, short 1st metacarpals, hypoplastic scapulae, non-mineralization of the pedicles of the thoracic vertebra, presence of 11 pairs of ribs, narrow iliac wings, and poor ossification of the pubis. The main facial features are a large head, flat nasal bridge, low-set and malformed ears, small jaw, and a cleft palate. A narrow chest, congenital dislocation of the hip, and bilateral talipes equinovarus are often common. A male-to-female autosomal sex reversal characterizes this syndrome in two-thirds of the affected karyotypic males.Expression can be very variable. For instance, campomelia is present in 90% of the cases. Cardiac defects and hydronephrosis have been reported in one-third of the patients. Moreover, in nearly 95% of the cases, death occurs in the neonatal period due to breathing problems related to small chest size [Mansour et al., 1995]. Key WordsBone dysplasia ؒ Dysmorphology ؒ Malformations ؒ Mental retardation ؒ SOX9 AbstractWe report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. Molecular analysis of the SOX9 gene revealed the presence of a de novo missense mutation: p.P170L (c.509C 1 T). Mild and surviving cases of campomelic dysplasia are reviewed.

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“…7 Management of STWS is symptomatic, requiring intensive care initially, including attention to feeding and nutrition, physiotherapy, and orthopedic intervention for the progressive skeletal abnormalities and osteopaenia in the few long term survivors. 8 The main cause of death in infancy is aspiration pneumonia due to defective swallowing, which improves with age in some patients. Management of the consequences of dysautonomia include protection of the tongue and eyes against repeated trauma because of the reduced pain sensation.…”

Section: Discussionmentioning

confidence: 99%

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Koul¹,

Al-Kindy²,

Mani³

et al. 2013

SQUMJ

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Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

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

Cited by 32 publications

References 30 publications

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

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

Mild Campomelic Dysplasia: Report on a Case and Review

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

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