Confirmation of existence of a new syndrome: LAPS syndrome

Lindor, Noralane M.; Kasperbauer, Jan L.; Hoffman, Alan D.; Parisi, Joseph E.; Wang, Hongwei; Warman, Matthew L.

doi:10.1002/ajmg.10316

Cited by 22 publications

(21 citation statements)

References 3 publications

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“…Two patients (case 1 and case 2) have been described previously at the authoring institution and been reviewed by others [2,3]. In addition, we present two new adult cases of MLS (case 3 and case 4) that have never previously been reported in the literature.…”

Section: Resultsmentioning

confidence: 85%

“…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: 95%

“…More recently, a syndrome characterized by laryngotracheal stenosis, arthropathy, prognathism and short stature, or LAPS syndrome, was described as a unique clinical entity [3,4]. However, mutation screens of patients affected with Myhre and LAPS syndromes have revealed that they are both phenotypic variants caused by de novo mutations in the SMAD4 gene which affect the function of the TGF-β/Bone Morphogenic Protein (BMP) pathway [5].…”

Section: Introductionmentioning

confidence: 97%

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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: Resultsmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 97%

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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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“…Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome (LAPS) 13 were described as a separate entity based on the presence of a recurrent laryngotracheal stenosis. 14 However, the similarity between both the syndromes, particularly the short stature, progressive joint limitation and the facial anomalies, made Lindor 15 postulate that they represent variable expressivity of the same entity.…”

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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“…Constrictive pericarditis with fibrosis of the pericardium is frequently seen in mulibrey nanism, and some patients develop myocardial fibrosis as well [Lipsanen-Nyman et al, 2003]. Two patients with LAPS (laryngeal stenosis, arthropathy, pericarditis, short stature) syndrome had constrictive pericarditis requiring pericardectomy [Hopkin et al, 1998] and pericardial window [Lindor et al, 2002]. Pericardial effusion has also been reported in a patient with the acromegaloid facial appearance (AFA) syndrome [Zelante et al, 2000].…”

Section: Discussionmentioning

confidence: 97%

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

Grange

Lorch

Cole

et al. 2006

American J of Med Genetics Pt A

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Cantu syndrome, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with hypertrichosis, characteristic facial features, skeletal abnormalities, cardiomegaly, and occasional pericardial effusions. Although autosomal recessive inheritance was originally proposed, a man with three affected children has been reported, making autosomal dominant inheritance likely. We report on a woman and her two daughters with Cantu syndrome, further confirming dominant inheritance. All three of our patients have cardiac involvement, and symptomatic pericardial effusions requiring surgical intervention occurred in the mother and one of her daughters. Chromosome microarray analysis was normal in one of the girls. The etiology of the cardiomegaly and pericardial effusions in Cantu syndrome is unknown. We review all previously reported cases of Cantu syndrome and the associated cardiac manifestations.

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Confirmation of existence of a new syndrome: LAPS syndrome

Cited by 22 publications

References 3 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

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

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