Biomaterial Database

Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). 1988

J P Fryns, and H Van den Berghe

Centre for Human Genetics, University of Leuven, Belgium.

In this paper we report a 7.5-year-old physically normal boy with van Buchem disease (endosteal hyperostosis). Vague complaints of headache were the indication for X-ray examination. At the age of 2 months a left-side peripheral facial nerve palsy suddenly occurred in this boy. Skull X-rays gave normal results at that age, suggesting that encroachment of the cranial nerves in van Buchem disease may occur as early as in the postnatal period, even before sclerosis of the skull has become radiologically visible.

UI	MeSH Term	Description	Entries
D006958	Hyperostosis, Cortical, Congenital	A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)	Caffey-De Toni-Silvermann Syndrome,Cortical Hyperostosis, Congenital,Infantile Cortical Hyperostosis,Caffey Disease,Congenital Hyperostosis, Cortical,Cortical Congenital Hyperostosis,Familial Caffey's Disease,Familial Infantile Cortical Hyperostosis,Caffey De Toni Silvermann Syndrome,Caffey's Disease, Familial,Congenital Cortical Hyperostoses,Congenital Cortical Hyperostosis,Congenital Hyperostoses, Cortical,Cortical Congenital Hyperostoses,Cortical Hyperostoses, Congenital,Cortical Hyperostoses, Infantile,Cortical Hyperostosis, Infantile,Disease, Caffey,Disease, Familial Caffey's,Familial Caffey Disease,Familial Caffeys Disease,Hyperostoses, Congenital Cortical,Hyperostoses, Cortical Congenital,Hyperostoses, Infantile Cortical,Hyperostosis, Congenital Cortical,Hyperostosis, Cortical Congenital,Hyperostosis, Infantile Cortical,Infantile Cortical Hyperostoses,Syndrome, Caffey-De Toni-Silvermann
D008297	Male		Males
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
D001846	Bone Development	The growth and development of bones from fetus to adult. It includes two principal mechanisms of bone growth: growth in length of long bones at the epiphyseal cartilages and growth in thickness by depositing new bone (OSTEOGENESIS) with the actions of OSTEOBLASTS and OSTEOCLASTS.	Bone Growth
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man