Biomaterial Database

[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance]. 1990

J J Manni, and J J Scaf, and P L Huygen, and J R Cruysberg, and W I Verhagen

Afd. KNO, Sint-Radboudziekenhuis, Nijmegen.

A family is described which currently comprises nine individuals, spanning three generations, who are affected with a bone disorder which is confined to the skull and is accompanied by impaired function of the cranial nerves. Radiological examination showed intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull, without involvement of the mandible or other skeletal bones. Invariably, the main presenting symptom was recurrent facial nerve paralysis from late childhood onwards, but concurrent and variable involvement of the olfactory, optic, vestibular and acoustic nerves was seen; this could be attributed to nerve compression by the bony encroachment into the cranial foramina. Morphological investigations revealed increased formation of bone tissue with a normal structure. The pedigree suggests an autosomal dominant mode of heredity. A review of the literature did not disclose any previous reports on this disorder.

UI	MeSH Term	Description	Entries
D006957	Hyperostosis Frontalis Interna	Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause.	Leontiasis Ossium,Morgagni-Stewart-Morel Syndrome,Morgagni Stewart Morel Syndrome,Syndrome, Morgagni-Stewart-Morel
D009408	Nerve Compression Syndromes	Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.	Entrapment Neuropathies,Nerve Entrapments,External Nerve Compression Syndromes,Internal Nerve Compression Syndromes,Nerve Compression Syndromes, External,Nerve Compression Syndromes, Internal,Compression Syndrome, Nerve,Compression Syndromes, Nerve,Entrapment, Nerve,Entrapments, Nerve,Nerve Compression Syndrome,Nerve Entrapment,Neuropathies, Entrapment,Neuropathy, Entrapment,Syndrome, Nerve Compression,Syndromes, Nerve Compression
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
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003391	Cranial Nerves	Twelve pairs of nerves that carry general afferent, visceral afferent, special afferent, somatic efferent, and autonomic efferent fibers.	Cranial Nerve,Nerve, Cranial,Nerves, Cranial
D005154	Facial Nerve	The 7th cranial nerve. The facial nerve has two parts, the larger motor root which may be called the facial nerve proper, and the smaller intermediate or sensory root. Together they provide efferent innervation to the muscles of facial expression and to the lacrimal and SALIVARY GLANDS, and convey afferent information for TASTE from the anterior two-thirds of the TONGUE and for TOUCH from the EXTERNAL EAR.	Cranial Nerve VII,Marginal Mandibular Branch,Marginal Mandibular Nerve,Seventh Cranial Nerve,Nerve VII,Nerve of Wrisberg,Nervus Facialis,Nervus Intermedius,Nervus Intermedius of Wrisberg,Cranial Nerve VIIs,Cranial Nerve, Seventh,Facial Nerves,Mandibular Nerve, Marginal,Mandibular Nerves, Marginal,Marginal Mandibular Nerves,Nerve VIIs,Nerve, Facial,Nerve, Marginal Mandibular,Nerve, Seventh Cranial,Nerves, Marginal Mandibular,Nervus Faciali,Seventh Cranial Nerves,Wrisberg Nerve,Wrisberg Nervus Intermedius
D005158	Facial Paralysis	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.	Facial Palsy,Hemifacial Paralysis,Facial Palsy, Lower Motor Neuron,Facial Palsy, Upper Motor Neuron,Facial Paralysis, Central,Facial Paralysis, Peripheral,Facial Paresis,Lower Motor Neuron Facial Palsy,Upper Motor Neuron Facial Palsy,Central Facial Paralyses,Central Facial Paralysis,Facial Palsies,Facial Paralyses, Central,Facial Paralyses, Peripheral,Palsies, Facial,Palsy, Facial,Paralyses, Central Facial,Paralyses, Facial,Paralyses, Hemifacial,Paralysis, Central Facial,Paralysis, Facial,Paralysis, Hemifacial,Paralysis, Peripheral Facial,Pareses, Facial,Paresis, Facial,Peripheral Facial Paralysis
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