Autosomal dominant microcephaly. 1979

R H Haslam, and D W Smith

Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly. It would appear that autosomal dominant microcephaly is more common than previously recorded, and that head circumference measurements of siblings and parents of affected patients should become a part of the initial investigation.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007859 Learning Disabilities Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA. Adolescent Learning Disabilities,Adult Learning Disabilities,Child Learning Disabilities,Developmental Academic Disability,Developmental Academic Disorder,Developmental Disabilities of Scholastic Skills,Learning Disabilities, Adolescent,Learning Disabilities, Child,Learning Disorders,Academic Disorder, Developmental,Adult Learning Disorders,Developmental Disorders of Scholastic Skills,Learning Disorders, Adult,Learning Disturbance,Scholastic Skills Development Disorders,Academic Disabilities, Developmental,Academic Disability, Developmental,Academic Disorders, Developmental,Adolescent Learning Disability,Adult Learning Disability,Adult Learning Disorder,Child Learning Disability,Developmental Academic Disabilities,Developmental Academic Disorders,Disabilities, Adolescent Learning,Disabilities, Adult Learning,Disabilities, Child Learning,Disabilities, Developmental Academic,Disabilities, Learning,Disability, Adolescent Learning,Disability, Adult Learning,Disability, Child Learning,Disability, Developmental Academic,Disability, Learning,Disorder, Learning,Disorders, Adult Learning,Disorders, Learning,Disturbance, Learning,Disturbances, Learning,Learning Disabilities, Adult,Learning Disability,Learning Disability, Adolescent,Learning Disability, Adult,Learning Disability, Child,Learning Disorder,Learning Disorder, Adult,Learning Disturbances
D008297 Male Males
D008831 Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002508 Cephalometry The measurement of the dimensions of the HEAD. Craniometry
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children

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