The fifth female patient with Myhre syndrome: further delineation

Abstract

We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced.

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

“…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.…”

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

“…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.…”

Myhre syndrome

“…Less frequently reported skeletal features were thick femoral necks (46%, 12/26) and broad ribs (56%, 24/43). Isolated case report also described private abnormalities, but vertebral malformations were recurrently mentioned: one with fusion of vertebrae C2–C3, partial fusions of T3–T5, T6–T7, T8–T9, fusion of ribs 10 and 11 on the right dorsal side and dorsal closure defect of L5 , one with 11 ribs, an extra lumbar vertebra, mild scoliosis and advanced bone age , one case with fusion of C3–C4 vertebrae , one case of LAPS with 11 thoracic vertebrae, narrowed T4–T5 interspace and advanced bone age , another case of LAPS with fusion of posterior elements of C5–C6 vertebrae and of anterior elements of T5–T6 vertebrae and anomalous upper sacrum and a further case of LAPS with fusion of the facets and spinous processes of C2–C3 vertebrae .…”

“…Other dermatological signs were scarcely reported: xanthomata of the nape , generalized nail dysplasia , hypertrophic scar and extensive follicular hyperkeratosis , hypoplastic nails on the second through fifth toes , thickened, yellowish, streaky skin on forehead and back of neck distributed along Blashko's lines and hyperkeratosis of palms and soles, thickened yellow streaks at the back of the neck, red striae in axillae and upper arms and hyperkeratotic papules on abdomen and forearms . LAPS patients also can present with associated dermatological signs: one case with Dupuytren contractures of I and II fingers , one case with progressive diffuse alopecia since 10 years of age and hard scars and one case with broad hyperpigmented scars .…”

“…After this canonical description and before the identification of SMAD4 mutations as a major cause of MS, 17 further cases were described (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12). The detailed description of these 17 additional cases (6 females and 11 males) emphasized variability in intellectual deficiency and growth retardation.…”