Abstract for presentation at 11th International Congress of Human Genetics

Fourth female case of Myhre Syndrome

  • Dr Azucena Del Toro-Valero, Doctorado en Genetica Humana, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
  • Dr María Lopez-Cardona, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
  • Dr Ricardo EVega, Doctorado en Genetica Humana, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara., Mexico
  • Dr Alfredo Feria-Velazco, Centro Universitario de Ciencias Biologías y Agropecuarias. Universidad de Guadalajara, Mexico
  • Dr Jocelyn Ledezma-Rodriguez, Hospital Valentin Gomez Farias, Servicio de Cirugía General, ISSSTE, Guadalajara, Jalisco, Mexico
  • Dr Jose Guemez-Gomez, Hospital Valentin Gomez Farias, Servicio de Ortopedia, ISSSTE, Guadalajara, Jalisco, Mexico
  • Dr Arturo Macias-Anton, .- Hospital Valentin Gomez Farias, Servicio de Ginecologia, ISSSTE, Guadalajara, Jalisco, Mexico
  • Dr Nory Davalos, Instituto de Genética Humana, C U C S. Universidad de Guadalajara, Mexico

    • Myhre syndrome is characterized by short stature, mental retardation, low birthweight, facial dysmorphism, heart abnomalies, conductive and/or sensorineural deafness, muscle hypertrophy and decreased joint mobility. Up to date 11 males cases and 3 females cases have been published. In this paper we describe the fourth female case and compare the clinical and radiological findings between all the patients. The proposita is a 26 year-old female, she was the product of 6th pregnancy and her healthy and non consanguineous parents had 35 year-old (mother) and 31 year-old (father) at the time of proposita’s birth; her weight and length was under the 3rd pc. In early infancy the patient evidenced delay development. At physical examination the patient showed BP 120/70 mmHg, short stature, microcephaly, mental retardation, abnormal teeth, maxillary hypoplasia, short palpebral fissures, short philtrum, short neck; in hands bilateral thenar-hypothenar hypoplasia, cutaneus syndactyly and brachydactyly, middle finger clinodactyly in the left hand; in foots bilateral syndactyly between second and third toes, bilateral brachydactyly. Routine laboratory studies revelated hypertriglyceridemia and the rest yield normal or negative results. Radiological studies showed a thick calvarium, broad ribs, hypoplastic iliac wings and hallux valgus. The clinical and radiological characteristics present in the proposita suggested a diagnosis of MS. A difference between this patient and the others two first female cases, is the presence of microcephaly.

    Conference Organiser - ICMS Pty Ltd