Clinical features and respiratory complications in Myhre syndrome

McGowan, Ruth; Gulati, Ramkumar; McHenry, P.; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; Essen, Ton van; Tolmie, John

doi:10.1016/j.ejmg.2011.07.001

Cited by 23 publications

(42 citation statements)

References 16 publications

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“…Including our series of 4 patients reported here, 2 of which had previously been described by Lindor et al, the total number of cases of MLS reported in the literature is now 63 [1][2][3][4]7,8]. Of these patients, 8/63 (13%) had laryngotracheal stenosis reported as a manifestation of their disease including the 4 patients described above.…”

Section: Discussionmentioning

confidence: 76%

“…1F). McGown et al previously reported on a patient with prior intubation who went on to develop laryngotracheal stenosis and Hopkin et al reported 3 cases of progressive laryngotracheal stenosis, of which 2/3 (67%) had prior intubation (Table 4) [4,7]. Given the high incidence of previous intubation in patients with MLS who develop laryngotracheal stenosis, we postulate that endotracheal intubation is a risk factor for later development of laryngotracheal stenosis, however, further study is needed to support that claim.…”

Section: Discussionmentioning

confidence: 96%

“…Stenotic segments included the subglottis (4/4), glottis and trachea (3/4), oropharynx (2/4) and nasopharynx (1/4). McGowan et al also presented one patient with multi-level laryngotracheal stenosis requiring surgical intervention [7]. Hopkins et al described three cases of possible LAPS syndrome though level of airway stenosis was not specified [4].…”

Section: Discussionmentioning

confidence: 97%

“…Though these patients exhibit a myriad of signs and symptoms, their cardiopulmonary and airway issues account for the majority of morbidity and mortality. Regarding airway stenosis, these patients develop refractory laryngotracheal stenosis, often resulting in multiple reoperations and long-term tracheostomy [3,4,7]. We hypothesize that these airway manifestations are a result of repeated airway trauma together with dysregulation of the ECM and resulting scar formation.…”

Section: Introductionmentioning

confidence: 94%

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Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions

Oldenburg

Frisch

Lindor

et al. 2015

American Journal of Otolaryngology

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 94%

See 2 more Smart Citations

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions

Oldenburg

Frisch

Lindor

et al. 2015

American Journal of Otolaryngology

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“…Other features noted included hearing loss, hypermetropia, congenital heart defect, cryptorchidism and pilonidal dimple. A total of 19 cases have subsequently been reported (6 females and 13 males) [2][3][4][5][6][7][8][9][10][11][12] highlighting variability in (i) the severity of the growth deficiency ranging from À6 to À2 SD and (ii) the degree of intellectual disability in which intelligence ranges from low to normal.…”

Section: Introductionmentioning

confidence: 99%

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

et al. 2014

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Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. We included 17 females and 15 males ranging in age from 8 to 48 years. Thirty were diagnosed with Myhre syndrome and two with LAPS. SMAD4 coding sequence was analyzed by Sanger sequencing. Clinical and radiological features were collected from a questionnaire completed by the referring physicians. All patients displayed a typical facial gestalt, thickened skin, joint limitation and muscular pseudohypertrophy. Growth retardation was common (68.7%) and was variable in severity (from À5.5 to À2 SD), as was mild-to-moderate intellectual deficiency (87.5%) with additional behavioral problems in 56.2% of the patients. Significant health concerns like obesity, arterial hypertension, bronchopulmonary insufficiency, laryngotracheal stenosis, pericarditis and early death occurred in four. Twenty-nine patients had a de novo heterozygous SMAD4 mutation, including both patients with LAPS. In 27 cases mutation affected Ile500 and in two cases Arg496. The three patients without SMAD4 mutations had typical findings of Myhre syndrome. Myhre-LAPS syndrome is a clinically homogenous condition with life threatening complications in the course of the disease. Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre syndrome.

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Recurrent Pericarditis in Myhre Syndrome

Picco

Naselli

Pala

et al. 2013

American J of Med Genetics Pt A

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Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with intellectual disability and/or behavioral disturbance, cardiac defects, cryptorchidism, and bone anomalies. The disease is caused by recently identified SMAD4 mutations. Here we describe a 7-year-old boy with a molecularly proven Myhre syndrome who presented life-threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin-1 receptor antagonist.

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Clinical features and respiratory complications in Myhre syndrome

Cited by 23 publications

References 16 publications

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Recurrent Pericarditis in Myhre Syndrome

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