BIOMAT Database Logo BIOMAT Database Logo

A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. 1997

G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
División de Genética, Centro de Investigación Biomédica, Instituto Mexicano del Seguro Social. Guadalajara, Jalisco, México.

Since its original description (2), many new cases of Cohen syndrome have been reported, most of them showing a quite variable expressivity. Autosomal recessive inheritance is widely accepted (MIM : 216550) (11), however, multiple instances of sporadic cases are observed. From a literature review (52 cases), we could determinate, in order of frequency, the most important clinical traits of the Cohen syndrome. We report here a father and two sons with dysmorphic features resembling Cohen syndrome and transmitting by an autosomal dominant mode.

UI MeSH Term Description Entries
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008800 Mexico A country in NORTH AMERICA, bordering the Caribbean Sea and the Gulf of Mexico, between BELIZE and the UNITED STATES, and bordering the North Pacific Ocean, between Guatemala and the UNITED STATES.
D009123 Muscle Hypotonia A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. Flaccid Muscle Tone,Hypotonia,Decreased Muscle Tone,Floppy Muscles,Hypomyotonia,Hypotony, Muscle,Muscle Flaccidity,Muscle Tone Atonic,Muscle Tone Poor,Muscular Flaccidity,Muscular Hypotonia,Neonatal Hypotonia,Unilateral Hypotonia,Flaccidity, Muscle,Flaccidity, Muscular,Floppy Muscle,Hypotonia, Muscle,Hypotonia, Muscular,Hypotonia, Neonatal,Hypotonia, Unilateral,Hypotonias, Neonatal,Hypotonias, Unilateral,Muscle Hypotony,Muscle Tone Atonics,Muscle Tone, Decreased,Muscle Tone, Flaccid,Muscle, Floppy,Muscles, Floppy,Muscular Flaccidities,Neonatal Hypotonias,Tone Atonic, Muscle,Tone Poor, Muscle
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005074 Evoked Potentials, Visual The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways. Visual Evoked Response,Evoked Potential, Visual,Evoked Response, Visual,Evoked Responses, Visual,Potential, Visual Evoked,Potentials, Visual Evoked,Response, Visual Evoked,Responses, Visual Evoked,Visual Evoked Potential,Visual Evoked Potentials,Visual Evoked Responses
D005124 Eye Abnormalities Congenital absence of or defects in structures of the eye; may also be hereditary. Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Familial 13p+ chromosome with mental retardation and dysmorphic features of two children.
September 1976, Human genetics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
A patient with hypoparathyroidism, dysmorphic features and mental retardation.
February 1996, European journal of medical research,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.
October 1995, Journal of medical genetics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Familial eosinophilic cellulitis, dysmorphic habitus, and mental retardation.
June 1998, Journal of the American Academy of Dermatology,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
X-linked dysmorphic syndrome with mental retardation.
November 1987, Clinical genetics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.
July 1982, European journal of pediatrics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
January 2011, European journal of medical genetics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism.
February 1991, Journal of medical genetics,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
July 2008, Clinical dysmorphology,
G Mejía-Baltodano, and L Bobadilla, and A Solís, and R Mendoza, and M Y Díaz-Gallardo, and P Barros-Núñez
Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.
August 1992, Human genetics,
Copied contents to your clipboard!