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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.

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Growth-Mental Deficiency Syndrome of Myhre.

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First described by Selma A. Myhre, an American pediatrician, in 1981.

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Remains unknown.

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Autosomal dominant.

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Maxillary hypoplasia, prognathism, and thick calvaria. Short palpebral fissures and blepharophimosis. Large nose with 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.

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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.

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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 trait.

Bottani A, Verloes A: Myhre-GOMBO syndrome: Possible lumping of two “old” new syndromes [letter]? Am J Med Genet 59:523, 1995.  [PubMed: 8585577]
Myhre SA, Ruvalcaba RHA, Graham CB: A new growth deficiency syndrome. Clin Genet 20:1, 1981.  [PubMed: 7296942]

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