No abstract available.
Dwarfism*

Hypochondroplasia is a form of short
Achondroplasia ; Christianity ; Dwarfism ; Extremities ; Hand

In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult ; Agammaglobulinemia* ; Dwarfism, Pituitary ; Growth Hormone ; Humans

There sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics, the condition must be included within the group of Spondylomephyseal dysplasia. In contract to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the three children described here was transmitted as autosomal recessive.
Child ; Dwarfism ; Humans ; Intelligence ; Skull ; Wills

Spondylometaphyseal dysplasia (SMD) is an extremely rare, which affects the spine and metaphy-ses of the tubular bones on terms of enchondrogenesis. Children who had Kozlowski dwarfism, type of SMD are not recognized until they reach school age since they have normal clinical feature, weight and size in early childhood. Authors experienced a typical case of Kozlowski type of SMD in a 10 years old male who had i) generalized platyspondyly with anterior tapering of vertebrae ii) generalized metaphyseal dysplasia iii) minimal changes in the carpal and tarsal bones. This case is to be reported with review of references.
Child ; Dwarfism ; Humans ; Male ; Spine ; Tarsal Bones

Dysplasia epiphysealis multiplex is a rare syndrome, first discribed by Fairbank in 1935, but numerous publications have made it a well-recognized entity. The syndrome is caused by a congenital developmental error of unknown etiology, characterized by changes in the developing epiphyses, dwarfism and stubby digits in children of normal intelligence. Diagnosis is mainly by roentgenographic apperences of the epiphyses before fusion to the shaft. The centers of ossification of the epiphyses are late in appearing, slow in developing, deformed in shape and irregular in density. The spine is never affected, blood and biochemicaI studies show no abnormality. A case of dysplasia epiphysealis multiplex which revealed typical roentgenographic pictures is presented with a brief review of a literature.
Child ; Diagnosis ; Dwarfism ; Epiphyses ; Humans ; Intelligence ; Spine

Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.
Chin ; Dwarfism ; Ear ; Fetal Growth Retardation ; Head ; Intellectual Disability ; Nose

Twenty years old Korean male patient with Hallermann-Streiff syndrome who developed glaucoma is reported. The clinical features are dyscephalia with mandibulo-oculo-facial malformation, bilateral congenital cataract, dental anomalies, hypotrichosis, microphthalmia, nanism and the secondary complications. A brief review of literature is described.
Cataract ; Dwarfism ; Glaucoma ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos

Child, Preschool ; Dwarfism ; congenital ; diagnosis ; Humans ; Male ; Osteochondrodysplasias ; congenital

Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary ; diagnosis ; genetics ; Genetic Association Studies ; Humans