Biomaterial Database

Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele. 1978

R L Friede

Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D009436	Neural Tube Defects	Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)	Craniorachischisis,Developmental Defects, Neural Tube,Diastematomyelia,Exencephaly,Neurenteric Cyst,Spinal Cord Myelodysplasia,Tethered Cord Syndrome,Acrania,Developmental Neural Tube Defects,Iniencephaly,Neural Tube Developmental Defects,Neuroenteric Cyst,Occult Spinal Dysraphism,Occult Spinal Dysraphism Sequence,Tethered Spinal Cord Syndrome,Acranias,Craniorachischises,Cyst, Neurenteric,Cyst, Neuroenteric,Cysts, Neurenteric,Cysts, Neuroenteric,Defect, Neural Tube,Defects, Neural Tube,Diastematomyelias,Dysraphism, Occult Spinal,Dysraphisms, Occult Spinal,Exencephalies,Iniencephalies,Myelodysplasia, Spinal Cord,Myelodysplasias, Spinal Cord,Neural Tube Defect,Neurenteric Cysts,Neuroenteric Cysts,Occult Spinal Dysraphisms,Spinal Cord Myelodysplasias,Spinal Dysraphism, Occult,Spinal Dysraphisms, Occult,Tethered Cord Syndromes
D009778	Occipital Lobe	Posterior portion of the CEREBRAL HEMISPHERES responsible for processing visual sensory information. It is located posterior to the parieto-occipital sulcus and extends to the preoccipital notch.	Annectant Gyrus,Calcarine Fissure,Calcarine Sulcus,Cuneate Lobule,Cuneus,Cuneus Cortex,Cuneus Gyrus,Gyrus Lingualis,Lingual Gyrus,Lunate Sulcus,Medial Occipitotemporal Gyrus,Occipital Cortex,Occipital Gyrus,Occipital Region,Occipital Sulcus,Sulcus Calcarinus,Calcarine Fissures,Calcarinus, Sulcus,Cortex, Cuneus,Cortex, Occipital,Cortices, Cuneus,Cortices, Occipital,Cuneate Lobules,Cuneus Cortices,Fissure, Calcarine,Fissures, Calcarine,Gyrus Linguali,Gyrus, Annectant,Gyrus, Cuneus,Gyrus, Lingual,Gyrus, Medial Occipitotemporal,Gyrus, Occipital,Linguali, Gyrus,Lingualis, Gyrus,Lobe, Occipital,Lobes, Occipital,Lobule, Cuneate,Lobules, Cuneate,Occipital Cortices,Occipital Lobes,Occipital Regions,Occipitotemporal Gyrus, Medial,Region, Occipital,Regions, Occipital,Sulcus, Calcarine,Sulcus, Lunate,Sulcus, Occipital
D010855	Pierre Robin Syndrome	Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.	Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D001933	Brain Stem	The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.	Brainstem,Truncus Cerebri,Brain Stems,Brainstems,Cerebri, Truncus,Cerebrus, Truncus,Truncus Cerebrus
D002531	Cerebellum	The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.	Cerebella,Corpus Cerebelli,Parencephalon,Cerebellums,Parencephalons
D002552	Cerebral Ventricles	Four CSF-filled (see CEREBROSPINAL FLUID) cavities within the cerebral hemispheres (LATERAL VENTRICLES), in the midline (THIRD VENTRICLE) and within the PONS and MEDULLA OBLONGATA (FOURTH VENTRICLE).	Foramen of Monro,Cerebral Ventricular System,Cerebral Ventricle,Cerebral Ventricular Systems,Monro Foramen,System, Cerebral Ventricular,Systems, Cerebral Ventricular,Ventricle, Cerebral,Ventricles, Cerebral,Ventricular System, Cerebral,Ventricular Systems, Cerebral
D002557	Cerebrospinal Fluid Shunts	Tubes inserted to create communication between a cerebral ventricle and the internal jugular vein. Their emplacement permits draining of cerebrospinal fluid for relief of hydrocephalus or other condition leading to fluid accumulation in the ventricles.	Cerebrospinal Fluid Shunt,Shunt, Cerebrospinal Fluid,Shunts, Cerebrospinal Fluid