scholarly journals Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings

1978 ◽  
Vol 44 (3) ◽  
pp. 359-359
Keyword(s):  
Mental Retardation ◽  
Familial Occurrence ◽  
Peripheral Dysostosis ◽  
Blue Eyes ◽  
Nasal Hypoplasia

ALBRIGHT'S HEREDITARY OSTEODYSTROPHY (WITHOUT HYPOCALCEMIA)

PEDIATRICS ◽  
1963 ◽  
Vol 31 (4) ◽  
pp. 599-607
Author(s):  
A. C. Papaioannou ◽  
B. E. Matsas
Keyword(s):  
Mental Retardation ◽  
Sex Ratio ◽  
Short Stature ◽  
Skeletal Dysplasia ◽  
Familial Occurrence ◽  
Radiographic Features ◽  
Albright’S Hereditary Osteodystrophy ◽  
Basic Defect ◽  
Metatarsal Bones ◽  
Albright's Hereditary Osteodystrophy

A case of Albright's hereditary osteodystrophy without hypocalcemia (pseudo-pseudohypoparathyroidism) is presented. In a review of 41 cases reported in the literature we found that the most commonly described features in order of frequency were short metacarpal or metatarsal bones (92%), short stature (76%), round face (71%), mental retardation (64%), obesity (61%), ectopic calcinosis (35%), and exostoses (23%). The familial occurrence of pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism in members of the same family, the inconsistency of hypocalcemia in many cases, and the similarity of the main manifestations and sex ratio in both conditions suggest that these are merely two forms of the same syndrome. It seems that this is an hereditary syndrome showing the phenomenon of pleiotropy. The basic defect is still unknown. The proposed terminology for this syndrome is discussed. It is concluded that only the skeletal dysplasia and the radiographic features can distinguish this disorder from idiopathic hypoparathyroidism.

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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