A new growth deficiency syndrome

Myhre, Selma A.; Ruvalcaba, R. H. A.; Graham, C. Benjamin

doi:10.1111/j.1399-0004.1981.tb01798.x

Cited by 83 publications

(47 citation statements)

References 2 publications

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“…Intrauterine growth retardation was observed in 23/29 (79.3%) cases (with data available). In three cases, additional features were detected antenatally including unilateral renal agenesis (1), common umbilical artery (1) and aortic coarctation (1). Postnatally, a growth retardation, ranging from À2SD to À5.5SD was present in 22/32 (68,7%) cases.…”

Section: Clinical Data Analysismentioning

confidence: 99%

“…The cause of death was restrictive respiratory insufficiency (1), restrictive pericarditis (1), sudden death with cardiogenic shock (1) and sudden death due to massive mesenteric ischemia of unexplained cause (1).…”

Section: Clinical Data Analysismentioning

confidence: 99%

“…Myhre syndrome was first described in 1981 by Myhre et al 1 The canonical description reported two unrelated males with growth deficiency (adult height between À5.5 and À4.5 SD), mental retardation and unusual facies (short palpebral fissures, mid-face hypoplasia, narrow mouth and prognathism) associated with joint limitations, generalized muscular hypertrophy and skeletal findings (thickened calvarium, prominent broad mandible, broad ribs, shortened tubular bones and large pedicles of the vertebrae). Other features noted included hearing loss, hypermetropia, congenital heart defect, cryptorchidism and pilonidal dimple.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Clinical Data Analysismentioning

confidence: 99%

Section: Clinical Data Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

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“…Only 16 patients have been reported with this syndrome to date. [18][19][20][21][22][23][24][25][26][27][28] As patients with larger overlapping deletions do not have clear characteristics of Myhre syndrome and recessive inheritance for Myhre syndrome cannot be excluded, sequencing analysis of the coding genes residing in the SRO was performed on patient 3, who had the most resemblance with Myhre syndrome, as well as on two other unrelated patients with suspicion of Myhre syndrome. No mutations were however identified.…”

Section: Discussionmentioning

confidence: 99%

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

et al. 2011

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“…Myhre syndrome is a rare genetic condition first described in 1981 by Myhre et al which is characterized by short stature, brachydactyly, facial dysmorphism, thick skin, a generalized muscular appearance and restricted joint mobility, among other abnormalities [1,2]. 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].…”

Section: Introductionmentioning

confidence: 96%