Biomaterial Database

Neurological considerations in achondroplasia. 1988

O Hurko, and R Pyeritz, and S Uematsu

Johns Hopkins University School of Medicine, Baltimore.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D002493	Central Nervous System Diseases	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.	CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D005539	Foramen Magnum	The large hole at the base of the skull through which the SPINAL CORD passes.	Foramen Magnums,Magnum, Foramen,Magnums, Foramen
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006849	Hydrocephalus	Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.	Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral
D000130	Achondroplasia	An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)	Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,SADDAN,SADDAN Dysplasia,Skeleton-Skin-Brain Syndrome,Achondroplasias,Dysplasia, SADDAN,Dysplasias, SADDAN,SADDAN Dysplasias,SADDANs,Skeleton Skin Brain Syndrome,Skeleton-Skin-Brain Syndromes,Syndrome, Skeleton-Skin-Brain,Syndromes, Skeleton-Skin-Brain
D013117	Spinal Cord Compression	Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.	Conus Medullaris Syndrome,Myelopathy, Compressive,Extramedullary Spinal Cord Compression,Spinal Cord Compression, Extramedullary,Compression, Spinal Cord,Compressions, Spinal Cord,Compressive Myelopathy,Conus Medullaris Syndromes,Spinal Cord Compressions,Syndrome, Conus Medullaris,Syndromes, Conus Medullaris