Syndrome characterized by mental retardation, short
stature, maxillary hypoplasia, prognathism, short palpebral fissures, short
philtrum, small mouth, generalized muscle hypertrophy, decreased joint
mobility, cryptorchidism, cardiac anomaly, and sensorineural deafness.
Growth-Mental Deficiency Syndrome of Myhre.
First described by Selma A. Myhre, an American pediatrician, in 1981.
Maxillary hypoplasia, prognathism, and thick
calvaria. Short palpebral fissures and blepharophimosis. Large nose
prominent root and short philtrum is present, with a small mouth and thin
upper lip. The thorax has large flat vertebrae with large pedicles. Other
bone abnormalities include hypoplastic iliac wings, brachydactyly, and
limited joint mobility of short tubular bones. Muscles are hypertrophied.
Abnormal EEG and congenital heart defects. Cryptorchidism. Prenatal and
postnatal growth deficiency with mental retardation. Early-onset mixed
conductive and sensory-type deafness occurs. Radiologically, several
particularities are reported and include thickened calvaria, broad ribs,
hypoplastic iliac wings, shortened long and tubular bones, and large,
flattened vertebrae with large pedicles.
Requires complete assessment of the
neurologic and psychomotor development, family history, and previous
problems. The cardiac system should be investigated because of the potential
association of congenital heart defect. ECG and echocardiography should be
considered before anesthesia. The potential risk for difficult direct
laryngoscopy and tracheal intubation should be borne in mind. The presence
of maxillary hypoplasia with severe prognathism and a small mouth must be
evaluated. No known reports of specific pharmacological implications with
this disorder. However, the presence of cardiac anomalies requiring ongoing
treatment influences the selection of anesthetic agents during induction and
maintenance of anesthesia.
GOMBO Syndrome (Myhre Gombo Syndrome): An acronym
that stands for growth retardation, ocular
abnormalities, microcephaly, brachydactyly, oligophrenia syndrome. It is
characterized clinically by severe microcephaly, microphthalmia, prominent
nose, mandibular prognathism, dental anomalies, brachydactyly with
clinodactyly V, premature aging of the skin, and severe mental retardation.
Other clinical features include waddling gait, motor retardation, narrow
pelvis, broad shoulders, and a significant incidence of diaphragmatic hernia
at birth. Transmission is familial and believed to be an autosomal recessive
Bottani A, Verloes A: Myhre-GOMBO syndrome: Possible lumping of two
“old” new syndromes [letter]? Am J Med Genet
Myhre SA, Ruvalcaba RHA, Graham CB: A new growth deficiency syndrome. Clin Genet