Myhre's syndrome in a girl with normal intelligence

Rulli, Immacolata; Ferrero, Giovanni Battista; Belligni, Elga Fabia; Delmonaco, Angelo Giovanni; Defilippi, Claudio; Silengo, Margherita

doi:10.1002/ajmg.a.30444

Cited by 18 publications

(12 citation statements)

References 8 publications

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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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Section: Introductionmentioning

confidence: 99%

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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“…This disorder, described by Myhre et al [1981], consisted of males with mental subnormality, pre‐ and postnatal growth deficiency, unusual facies (including maxillary hypoplasia, prognathism, short palpebral fissures, short philtrum, and small mouth), generalized muscle hypertrophy, decreased joint mobility, cardiac anomaly, early onset mixed deafness, osseous abnormalities including thickened calvaria, broad ribs, and hypoplastic iliac wing [Myhre et al, 1981]. Additional cases of Myhre syndrome including some females have since appeared in the literature [Soljak et al, 1983; Garcia‐Cruz et al, 1993; Titomanlio et al, 2001; Whiteford et al, 2001; Burglen et al, 2003; Davalos et al, 2003; Lopez‐Cardona et al, 2004; Rulli et al, 2005; van Steensel et al, 2005]. Of 13 reported, 9 were noted to have stiff skin, though none manifested the recurrent laryngotracheal stenosis that dominated the medical care of the LAPS patients.…”

Section: To the Editormentioning

confidence: 99%