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De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus. 2001

T Sudha, and A J Dawson, and A N Prasad, and D Konkin, and G W de Groot, and C Prasad
Department of Biochemistry, Health Sciences Centre, University of Manitoba, Winnipeg, Canada.

We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002893 Chromosomes, Human, Pair 3 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 3
D003616 Dandy-Walker Syndrome A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) Dandy-Walker Malformation,Dandy-Walker Complex,Dandy-Walker Cyst,Dandy-Walker Deformity,Dandy-Walker Syndrome, Familial,Hydrocephalus, Internal, Dandy-Walker Type,Hydrocephalus, Noncommunicating, Dandy-Walker Type,Luschka-Magendie Foramina Atresia,Cyst, Dandy-Walker,Cysts, Dandy-Walker,Dandy Walker Complex,Dandy Walker Deformity,Dandy Walker Malformation,Dandy Walker Syndrome,Dandy Walker Syndrome, Familial,Dandy-Walker Complices,Dandy-Walker Cysts,Dandy-Walker Deformities,Familial Dandy-Walker Syndrome,Luschka Magendie Foramina Atresia,Malformation, Dandy-Walker
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019465 Craniofacial Abnormalities Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. Abnormalities, Craniofacial,Abnormality, Craniofacial,Craniofacial Abnormality

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