Results 161 to 170 of about 13,585 (194)
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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.
Robert J. Gorlin +2 more
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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.
Robert J. Gorlin +2 more
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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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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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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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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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PITUITARY DWARFISM AND TOXOPLASMOSIS
The Journal of Clinical Endocrinology & Metabolism, 1955HYPOPITUITARISM may involve all pituitary secretions (panhypopituitarism), or may be limited to failure of secretion of one or two hormones. With recent improvement in methods of study, interest in the latter group has grown. One syndrome in this group, however, has been under discussion for many years, namely that of pituitary dwarfism.
Sidney M. Wolfe +2 more
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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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LETHAL SHORT-LIMBED DWARFISM: ACHONDROGENESIS AND THANATOPHORIC DWARFISM
American Journal of Roentgenology, 1971Achondrogenesis is a lethal skeletal dysplasia in which micromelia is severe and delay in ossification is extreme.The roentgenographic features are diagnostic and form a distinctive pattern. Almost total absence of ossification is noted in the vertebral bodies, sacrum, ischial and pubic bones, and calcaneus and talus.
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