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At least 181 records · Page 10Linked to original sources
PubMed1989

A new type of lethal short-limbed dwarfism.

Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification within cartilage. The features resemble one case previously described in the literature. We wish to present a new type of lethal short-limbed dwarfism which has presented in one family. Three affected infants have been born to unaffected parents who are first cousins. The third affected infant is reported in detail and the radiological signs of all three sibs are summarised in Table 1. There are also two healthy children, a boy and a girl, born at term.

Female↗
PubMed2004

Engineered sorbitol accumulation induces dwarfism in Japanese persimmon.

A cDNA encoding sorbitol-6-phosphate dehydrogenase (S6PDH), which is a key enzyme in sorbitol biosynthesis in Rosaceae, was introduced into the Japanese persimmon (Diospyros kaki) to increase the environmental stress tolerance. Resultant transformants exhibited salt-tolerance with dwarfing phenotypes. Therefore, we studied two transgenic lines to understand the physiological mechanism of this dwarfism: lines PS1 and PS6 accumulated high and moderate levels of sorbitol, respectively. The average length of shoots was significantly shorter as compared with the wild-type in line PS1, while no such decrease was observed in line PS6. The myo-inositol and glucose 6-phosphate (G6P) contents were measured in the transgenic lines because previous work with tobacco transformed with S6PDH had suggested that growth inhibition was due to depletion of these metabolites. Although the myo-inositol content was decreased in PS1 plants, the decrease was much smaller than that observed in transgenic tobacco that accumulates sorbitol. The G6P contents were the same in PS1 plants and phenotypically normal PS6 plants. The level of indole-3-acetic acid (IAA), which affects stem elongation, in line PS1 was similar to the levels in the other lines. A decrease in gibberellin (GA) content generally induces dwarfism in plants. However, GA was not decreased in PS1 plants compared with wild-type or control plants. Therefore, we focused on sorbitol accumulation as the most remarkable feature of PS1 plants. As one possibility, the observed growth inhibition was likely caused by an osmotic imbalance between the cytosol and vacuole.

Abscisic Acid↗
PubMed1976

Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).

Two siblings with marked dwarfism, now 11 and 19 years of age, have been followed from infancy. The girl had frequent episodes of pneumonitis and presented at age 4 years with hepatic enlargement and ascites which proved to be due to constrictive pericarditis. The boy presented with growth failure and pseudohydrocephalus. He had fibrous dysplasia of the tibia and a pathologic fracture; acute hepatic congestion followed physical activity at age 13 years and led to the diagnosis of constrictive pericarditis. Muscle function was normal, there was no evidence for a primary liver disorder, and mental development was normal so that the coined word "mulibray" seemed inappropriate. Pericardiectomy produced only partial improvement; both patients have hepatic enlargement and continue to need diuretics. A third patient with dwarfism, frequent respiratory infections, and pericardial calcification has certain features of the syndrome.

Adolescent↗
PubMed1976

Aging progression involving dwarfism and its acceleration by red light in bean hypocotyls.

The effect of red light on the aging progression of the bean (Phaseolus vulgaris L.) hypocotyl segment unit was examined in relation to dwarfism using Kentucky Wonder (tall) and Masterpiece (dwarf) varieties. In both plants, red light promoted the elongation of younger zones and inhibited that of mature zones. The zone exhibiting maximum elongation was shifted to the younger zones by red light irradiation regardless of the plant type, but its extent was greater in the dwarf than in the tall. Thus, red light hastens both the beginning of elongation in the younger portion and its termination in the mature portion of the hypocotyl, particularly of the dwarf plant. These red light responses in each zone of both the tall and dwarf hypocotyl units were reversed by subsequent exposure to far red light regardless of the duration and intensity of red light, thus indicating that the hastened aging progression of the hypocotyl by red light is mediated by phytochrome. However, there is no difference in the rate of decay of Pfr between the tall and dwarf hypocotyls.The increased expression of bean dwarfism seems to result from a concerted action of red light upon the maturation of younger portions of the hypocotyls, which is more rapid in the dwarf than in the tall, and upon the elongation of the relatively matured portion, which is more severely inhibited in the dwarf.

Journal Article↗
PubMedDate not supplied

Thanatophoric dwarfism in a Nigerian child.

We describe a lethal variety of congenital short-limbed dwarfism (Thanatophoric dwarfism) characterized by marked shortening of the extremities, macrocephaly with associated hydrocephalus and a narrow thorax, delivered by a 25-year-old woman in our hospital. Experience with this form of abnormality is rare and even an isolated case report will heighten awareness and assist with further management and counselling of parents.

Female↗
PubMedDate not supplied

The surgical treatment of vertebral deformities in achondroplastic dwarfism.

The authors analyzed 15 patients affected with achondroplastic dwarfism with vertebral deformity treated surgically between 1976 and 1994. The forms represented were: achondroplasia; diastrophic dwarfism; spondyloepiphyseal achondroplasia. The types of vertebral deformity were: kyphosis: 12 (angular: 6; regular: 6); scoliosis: 1; kyphoscoliosis: 2. Neurological symptoms were present in 10 patients. Treatment was as follows: laminectomy: 8; posterior fusion with instrumentation: 2; anterior fusion: 2; anterior fusion with laminectomy and posterior fusion: 3. There were postoperative neurological complications in 4 cases (27%). Fusion must be performed early in angular kyphosis in the adult in order to prevent neurological symptoms. Wide laminectomies do not require associated fusion because they do not cause late vertebral instability.

Achondroplasia↗
PubMed1975

Free serum thyroxine level and basal metabolic rate. Aids to diagnosis in malnutrition and small-for-gestational-age dwarfism.

Measurement of the basal metabolic rate (BMR) and the total and free serum thyroxine values in response to feeding are aids in the diagnosis of growth failure. Infants with small-for-gestational-age dwarfism gained weight poorly in the hospital, had a low BMR before and after spontaneous or induced weight gain, and a normal serum thyroxine value. Infants with linear growth failure due to chronic malnutrition had a normal BMR but a low serum thyroxine value that rose to normal with weight gain; infants with clinical signs of recent weight loss had a low BMR and a low serum thyroxine value, both of which rose to normal with weight gain. Increases of the BMR were sharp and very rapid; they preceded the rise of the serum thyroxine value in some cases.

Basal Metabolism↗
PubMed1980

Rothmund-Thomson syndrome with severe dwarfism.

Two patients had severe dwarfism and limb anomalies, but also had other clinical characteristics of the Rothmund-Thomson syndrome, including characteristic skin changes, abnormal hair growth, sensitivity to sunlight, defective nails and teeth, and juvenile cataracts. We emphasize that this diagnosis should be considered in any patient with extremely short statute, associated skeletal anomalies, and an early onset of typical cutaneous changes.

Adult↗
PubMed1980

Long-limbed campomelic dwarfism. A radiologic and pathologic study.

Comparison of the roentgenographic and pathologic features of a case of classic, long-limbed campomelic dwarfism with those of previously reported cases leads to the conclusion that the bony abnormalities in this disorder are not due to an intrinsic abnormality of cartilage formation or of osteoblast or osteoclast function. Likewise, no defect in bone collagen, ground substance, or mineralization is evident. The bowing of the long bones may be the result of poorly understood muscular stresses operative in utero. Widespread defects in other organ systems are present, with considerable variation from patient to patient. Phenotypic females with disorder commonly suffer from gonadal dysgenesis. Autosomal recessive inheritance is suggested for a subgroup of these patients, but environmental factors may be causative in some instances.

Abnormalities, Multiple↗
PubMed1996

Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.

We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year mental development is slightly retarded. The X-ray findings of severe vertebral segmentation defects and a generalized metaphyseal skeletal dysplasia did not lead to a final, conclusive diagnosis. The present patient may be the first example of a new type of micromelic spondylo-epi-metaphyseal dysplasias.

Adult↗
PubMed1996

A new Seckel-like syndrome of primordial dwarfism.

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.

Abnormalities, Multiple↗
PubMed1998

Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination.

We describe a 7-year-boy with severe prenatal and postnatal growth retardation, skeletal changes, normal intellect, and unusual facial appearance. The skeletal changes are suggestive of osteodysplastic primordial dwarfism type II (OPD II). He is the first patient of this kind from the Indian subcontinent and the 18th to be reported, based on a literature search (MEDLINE; 1982 to April 1997). He also represents the first case of OPD-II with normal intellect but delayed central nervous system myelination.

Brain↗
PubMed1998

Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause.

Child↗
PubMed2000

Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This disorder was later named Lenz-Majewski hyperostotic dwarfism. We describe the reexamination of the original patient at the age of 30 years.

Abnormalities, Multiple↗
PubMed2002

Morphometric appraisal of the skull of Caroline Crachami, the Sicilian "dwarf" 1815?-1824: a contribution to the study of primordial microcephalic dwarfism.

The skeleton of Caroline Crachami is a rare historical example of primordial microcephalic dwarfism (PMD). Studies show the condition to be heterogeneous, with at least three types, for which the assessment criteria rely on descriptive evaluations and/or simple measures with regard to cranial features. Advances in noninvasive imaging allow for a more complete morphometric examination of the skull of Caroline Crachami with the aim of clarifying aspects of the condition. In the present study, the skull of Caroline Crachami was three-dimensionally imaged with computed tomography (CT) and reconstructed in virtual space. Coordinates for a number of measurements were taken to represent interesting anatomies with an emphasis on those measures not easily replicated on the skull itself. Volumes of the endocranial cavity and sella turcica were also computed. These data were compared with normative values taken from the literature and measured from CT images of the Bosma collection. Findings indicate that the general size of the skull is equivalent to that of a 6- to 8-month-old, that the endocranial volume and cranial base angle are commensurate with that of a newborn, and that the sella volume is the same as that for an 8- to 15-month-old. Apart from these traits, the skull was well proportioned and within the range of normal variation for a skull aged between 2-9 years. We conclude that further quantitative analysis on related skulls is warranted in the study of PMD using the methods and techniques described.

Dentition↗
PubMed2002

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V-shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II.

Abnormalities, Multiple↗