Results 251 to 260 of about 38,480 (303)
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Pediatric Radiology, 1980
A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic
P, Beighton, B J, Cremin, K, Kozlowski
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A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic
P, Beighton, B J, Cremin, K, Kozlowski
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Acta Obstetricia et Gynecologica Scandinavica, 1984
Abstract. Thanatophoric dwarfism was distinguished as a separate entity in 1967. A report is presented of the first case of thanatophoric dwarfism in Scandinavia. A literature survey is given of the clinical, radiological, ultrasonic and his‐tological findings.
U B, Baekmark, B, Bliddal, M, Lorentzen
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Abstract. Thanatophoric dwarfism was distinguished as a separate entity in 1967. A report is presented of the first case of thanatophoric dwarfism in Scandinavia. A literature survey is given of the clinical, radiological, ultrasonic and his‐tological findings.
U B, Baekmark, B, Bliddal, M, Lorentzen
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Clinical Orthopaedics and Related Research, 1976
Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate.
D W, Hollister, R S, Lachman
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Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate.
D W, Hollister, R S, Lachman
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Pediatric Clinics of North America, 1978
We have not attempted to discuss the many forms of dwarfism with onset in childhood or adolescence, nor has it been possible to examine the many other causes of the small for gestational age infant, recently the subject of a review in this series.
D O, Sillence, D L, Rimoin, R, Lachman
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We have not attempted to discuss the many forms of dwarfism with onset in childhood or adolescence, nor has it been possible to examine the many other causes of the small for gestational age infant, recently the subject of a review in this series.
D O, Sillence, D L, Rimoin, R, Lachman
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Australasian Radiology, 1972
SummaryA case of Thanatophoric Dwarfism is described in which the foramen magnum was found to be grossly reduced in size. The distance between the petrous temporal bones was also reduced in size but were anatomically normal.It is thought that the size of the foramen magnum may be associated with areflexia and hypotonia and the lethal nature of the ...
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SummaryA case of Thanatophoric Dwarfism is described in which the foramen magnum was found to be grossly reduced in size. The distance between the petrous temporal bones was also reduced in size but were anatomically normal.It is thought that the size of the foramen magnum may be associated with areflexia and hypotonia and the lethal nature of the ...
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American Journal of Diseases of Children, 1978
Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis.
J G, Gruhn, R J, Gorlin, L O, Langer
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Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis.
J G, Gruhn, R J, Gorlin, L O, Langer
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Current Opinion in Endocrinology & Diabetes and Obesity, 2015
To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life.The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to ...
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To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life.The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to ...
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