Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “DWARFISM”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMed1981

Occurrence of four types of growth hormone-related dwarfism in Israeli communities.

Data are presented on 121 dwarfed patients belonging to 98 Israeli families with 4 types of dwarfism related to deficiency or in activity of human growth hormone (hGH): isolated growth hormone deficiency (IGHD), partial hGH deficiency (pIGHD), multiple pituitary hormone deficiencies (MPHD) and Laron-type dwarfism (LTD). These series are believed to comprise most of the dwarfs of these types in Israel; however, their distribution among the various ethnic communities varies greatly: LTD (15 families) is confined to a few communities of Oriental Jews; only 3 of 30 families with IGHD, but 7 of 10 families with pIGHD, are Ashkenazi, whereas the clinic distribution of 42 families with MPHD corresponds roughly to that of the general population. These data seem to reflect the role of genetic factors in the etiology of the various types of dwarfism: the stronger the genetic component, the greater is its deviation from random occurrence among the various communities.

Dwarfism, Pituitary↗
PubMed1995

Dynamic enhancement MRI of anterior lobe in pituitary dwarfism.

We examined 23 patients with pituitary dwarfism by dynamic MRI; with a repetition time of 150 or 50 ms. The time-enhancement difference curves of selected regions in the anterior lobes were plotted. Another 48 patients with no definite clinical pituitary disfunction were examined with the same technique. We found that the intensity of maximum enhancement in both groups was similar, but the time to achieve maximum enhancement was delayed in pituitary dwarfism with or without stalk transection; the time seemed longest with stalk transection. There was little difference in enhancement between patients with multiple hormone deficiency or isolated growth hormone deficiency. Dynamic MRI of the anterior lobes may be an important functional imaging study, and our results imply that poor perfusion is a useful finding in pituitary dwarfism, especially in patients without stalk transection and normal pituitary height.

Adolescent↗
PubMed1980

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.

Spondyloepiphyseal dysplasia congenita is a form of primary short dwarfism, that is manifest at birth generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

Abnormalities, Multiple↗
PubMed1993

Micromelic dwarfism--humerus, femur, tibia type. Report of a case.

A 12.5-year-old girl with severe micromelic dwarfism and characteristic radiographic findings is reported. The most important phenotypic abnormality was dwarfism (stature < 100 cm); the patient had a normal face and intelligence. The diagnostic radiographic findings were those of spondylo-epimetaphyseal dysplasia characterized by severe shortening of humerus, femur and tibia, hypoplastic but normal-shaped fibula, ulna and radius, uniform shortening of the short tubular bones and moderately severe platyspondyly. These radiographic changes were already present at birth, which should make it possible to recognize the disease in the newborn. We propose naming this disorder micromelic dwarfism-humerus, femur, tibia type.

Child↗
PubMed1992

Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism.

Patients with Laron-type dwarfism are clinically indistinguishable from those with isolated growth hormone (GH) deficiency, yet have high circulating GH concentrations associated with an inability to generate endogenous insulin-like growth factor I (IGF-I). Biosynthetic IGF-I was administered subcutaneously once daily for 3 to 10 months to 5 children with Laron-type dwarfism aged 3.3 to 14.5 years. There was a rapid stimulation of linear growth in body limbs, with a striking increase in head circumference, increased body weight, and a reduction in subcutaneous fat. Administration of IGF-I to patients with Laron-type dwarfism seems to have a beneficial effect on growth similar to that observed with long-term administration of GH in children with GH deficiency.

Adipose Tissue↗
PubMed1984

Similarities and differences between nonorganic failure to thrive and deprivation dwarfism.

Although the terms, nonorganic failure to thrive and deprivation dwarfism, are sometimes used interchangeably, and while the family pathology is similar in both conditions, the clinical features differ. The majority of children with nonorganic failure to thrive are under 2 years and often 18 months of age. Weight loss is the most marked feature and they are often withdrawn and apathetic. In contrast, the documented ages of children with deprivation dwarfism range from 2 to 15 years although the history may reveal earlier feeding and behavior problems. Short stature is the most striking feature, their weight often being in proportion to their height. They may steal and hoard food and have bizarre eating habits. In some cases reversible hypopituitarism has been documented. It is suggested that deprivation dwarfism constitutes a subgroup within the nonorganic failure to thrive syndrome. Management in both conditions is similar. It should emphasize a practical, supportive approach and be on a long-term basis.

Adolescent↗
PubMed2006

The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs.

Pituitary dwarfism in German shepherd dogs is characterized by combined pituitary hormone deficiency (CPHD) and intrapituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)-LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of pituitary dwarfism in German shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.

Animals↗
PubMed1977

Heterogeneity of nonlethal severe short-limbed dwarfism.

The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.

Adult↗
PubMed1984

Dyssegmental dwarfism: a histologic study of osseous and nonosseous cartilage.

Dyssegmental dwarfism is probably an autosomal recessive, lethal, generalized chondrodysplasia; it is characterized by anisospondyly , shortening of long bones, and narrow chest. Maturation of chondrocytes at the epiphyseal plates is disturbed. The pathologic features of osseous and nonosseous cartilage in a stillborn female infant with dyssegmental dwarfism are described. The cartilage matrix of tubular bones, vertebrae, ilia , ribs, nose, larynx, and trachea showed acellular areas with accumulation of acid mucopolysaccharides and no increase in collagen fibers. The findings, although not pathognomonic, suggest that this type of dwarfism may be a generalized connective tissue disorder. The abnormal synthesis, structure, or secretion of the components of the cartilaginous matrix may lead to accumulation of acellular material in both skeletal and respiratory tract cartilage.

Adult↗
PubMed1978

Neonatal death dwarfism. (A further report).

Seven cases of rare "Neonatal Death Dwarfism" observed recently in three major Children's Hospitals in Australia are reported. These include Diastrophic Dwarfism, Achondrogenesis II, Lethal Form of Hypophosphatasia, Homozygous Achondroplasia, Minor Form of Asphyxiating Thoracic Dystrophy, Achondrogenesis II (?) and Unclassified Lethal Bone Dysplasia. In all the patients the clinical diagnosis was uncertain or incorrect, whereas a conclusive radiographic diagnosis could be made after X-ray examination in all but one of the cases. Skeletal survey should be performed in each case of neonatal death dwarfism.

Abnormalities, Multiple↗
PubMedDate not supplied

[Differential diagnostic considerations in microcephalic dwarfism].

PURPOSE: While the rare Seckel-Syndrome is defined by clear criteria, clinical and radiologic findings for microcephalic osteodysplastic primordial dwarfism (MOPD) make an exact diagnosis and classification difficult. By comparing our patients to previously described cases of MOPD we evaluate the hypothesis that this disorder has a greater heterogeneity than has been believed up until now. Furthermore the differential diagnosis of the MOPD-complex is discussed. RESULTS: Two cases that show typical growth retardation, microcephalus and facial anomalies as well as osteodysplastic deformities including hip dysplasia are presented. The parents of both children are consanguineous and of Arabic race. In one of the children growth hormone levels were noticeably decreased. In discrepancy to the Seckel-syndrome both children showed no signs of mental retardation, therefore the classification into the heterogeneous group of microcephalic osteodysplastic primordial dwarfism (MOPD) is the most likely diagnosis. CONCLUSION: It is suggested that microcephalic osteodysplastic primordial dwarfism (MOPD) has a greater clinical and radiological expression than has been assumed up until now. Whether our results are merely a variant or suggest a new subtype of the MOPD can only be resolved by further cases. The exact pathogenesis of the disease currently remains unknown but the most probable cause is an autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1992

IGF binding protein 3 in patients with Laron type dwarfism: effect of exogenous rIGF-I.

OBJECTIVE: The aim of the study was to investigate the serum levels of IGFBP-3, the major IGF-I binding protein, in patients with Laron type dwarfism (LTD) before and after IGF-I treatment. DESIGN AND PATIENTS: Eight Laron type dwarfism patients (four children and four adults) were treated for 7 days by one daily s.c. injection of biosynthetic IGF-I in doses of 120 or 150 micrograms/kg/day. MEASUREMENTS: Blood was sampled in the fasting state before and 1 and 7 days after the last injection. RESULTS: It was found that IGF-I administration significantly reduced plasma hGH levels with recovery after one week of no treatment. Serum IGFBP-3 was abnormally low (0.70 +/- 0.37 mg/l) and decreased significantly further during IGF-I treatment (to 0.48 +/- 0.28 mg/l) (P less than 0.065). CONCLUSIONS: The finding that serum IGFBP-3 is low in Laron type dwarfism, a disease due to molecular defects in the GH receptor, is compatible with the hypothesis that this IGF binding protein is GH-dependent. On the other hand the decrease during IGF-I administration and concomitant suppression of GH secretion may denote either that GH activity is not completely blocked in this syndrome or that there are additional mechanisms regulating IGFBP-3 synthesis.

Adolescent↗
PubMed2006

Inheritance of proportionate dwarfism in Angus cattle.

OBJECTIVE: To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. DESIGN: Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. PROCEDURE: Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. RESULTS: Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. CONCLUSIONS: The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable mutant which changes at high frequency to the expressed dominant dwarfing allele during gametogenesis, or (ii) a dominant allele with penetrance determined by an unlinked modifying locus, are shown to be compatible with the experimental data. Both models indicate that penetrance of the dwarfing gene may possibly be higher in matings involving carrier daughters of the two Angus bulls.

Animals↗
PubMedDate not supplied

Congenital hypothyroid dwarfism in a family of giant schnauzers.

Congenital hypothyroid dwarfism was diagnosed in a family of Giant Schnauzers. Three female and two male puppies from different litters were evaluated for dwarfism, lethargy, somnolence, gait abnormalities, and constipation. On physical examination, disproportionate dwarfism (n = 5), macroglossia (n = 3), hypothermia (n = 3), delayed dental eruption (n = 3), ataxia (n = 2), and abdominal distension (n = 1) were identified. Results of initial laboratory tests showed anemia (n = 4), hypercholesterolemia (n = 4), hypercalcemia (n = 2), and transudative abdominal effusion (n = 1). Radiographic skeletal surveys disclosed epiphyseal dysgenesis and delayed skeletal maturation (n = 5). A diagnosis of hypothyroidism was established on the basis of low basal serum thyroxine concentrations that failed to increase following the administration of TSH (n = 5) and markedly reduced to absent thyroid image when evaluated with gamma camera imaging of the thyroid gland (n = 4). In the two dogs that were most thoroughly evaluated, the results of thyroid histology, prolonged TSH testing, and repeat thyroid imaging, after three daily injections of TSH, were all consistent with secondary or tertiary, rather than primary, hypothyroidism. When TSH was administered over a period of 3 consecutive days (5 IU/day, subcutaneously), serum thyroid hormone response became normal and resulted in a normal thyroid image in the two dogs re-evaluated with gamma camera imaging. Daily treatment with oral levothyroxine (20 micrograms/kg) resulted in complete remission in puppies (n = 4) treated prior to 4 months of age. The other puppy failed to attain normal breed standards for height.(ABSTRACT TRUNCATED AT 250 WORDS)

Alkaline Phosphatase↗
PubMed1986

Pituitary dwarfism: CT evaluation of the pituitary gland.

The pituitary glands of 12 patients, aged 4-20 years, with pituitary dwarfism and of 15 age-matched control patients were evaluated with contrast-enhanced, high-resolution computed tomography (CT). In control patients, CT clearly demonstrated pituitary glands and stalks, 2.5-9.0 mm in height (average, 5.7 mm +/- 1.8). In the 12 patients with pituitary dwarfism, CT did not demonstrate the gland or stalk in four; CT faintly showed only the stalk in another four and showed a small gland (less than 2 mm in height) and a small to normal stalk in the remaining four. Eleven of the 12 patients had a birth history of breech presentation. Possible causes of pituitary dwarfism are discussed.

Adolescent↗
PubMed1971

Effect of thyrotropin-releasing factor on serum thyroid-stimulating hormone. An approach to distinguishing hypothalamic from pituitary forms of idiopathic hypopituitary dwarfism.

To test the hypothesis that the primary defect in some patients with idiopathic hypopituitary dwarfism is failure to secrete hypothalamic hypophysiotropic-releasing factors, synthetic thyrotropin-releasing factor (TRF), 500 mug, wa given intravenously, and timed venous samples obtained for determination of the concentration of plasma TSH by radioimmunoassay in three groups of subjects: (a) 11 patients without evidence of endocrine or systemic disease, (group I) (b) 8 with isolated growth hormone deficiency and normal thyroid function, (group II) and (c) 9 patients with idiopathic hypopituitary dwarfism and thyroid-stimulating hormone (TSH) deficiency (group III). The mean fasting plasma TSH value was 4.1 muU/ml in group I, and 3.9 muU/ml in group II; in both groups there was a brisk rise in plasma TSH to peak levels of 12-45 muU/ml at 30-45 min, and a fall toward base line levels at 120 min. All children in group III had basal TSH levels of < 1.5 muU/ml; one failed to respond to TRF; eight exhibited a rise in plasma TSH with peak values comparable with those in groups I and II. In four of eight children in group III who responded to TRF, the TSH response was delayed and the initial rise in plasma TSH was not detectable until 10-60 min. In these four patients, plasma TSH levels continued to rise at 120 min. The mean fasting concentration of plasma thyroxine iodide (T(4)) in subjects with normal thyroid function (groups I and II) was 5.6 mug/100 ml, and the mean plasma T(4) level at 120 min was 6.6 mug/100 ml. This difference between fasting and postTRF plasma T(4) was significant (P < 0.001) by paired analysis. Mean fasting plasma T(4) concentration in group III patients was 1.3 mug/100 ml; after TRF a significant rise in T(4) concentration was not detected in this group. The results indicate that TRF test is useful in distinguishing between primary hypothalamic and pituitary forms of TSH deficiency. In light of the evidence of TRF deficiency in eight of nine patients with idiopathic hypopituitary dwarfism, it seems likely that in these patients, other pituitary hormone deficiencies may be attributable to deficiency of their respective releasing factors.

Adolescent↗
PubMed1991

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

In addition to its classical effects on growth, growth hormone (GH) has been shown to have a number of other actions, all of which are initiated by an interaction with specific high affinity receptors present in a variety of tissues. Purification of a rabbit liver protein via its ability to bind GH has allowed the isolation of a cDNA encoding a putative human growth hormone receptor that belongs to a new class of transmembrane receptors. We have previously shown that this putative growth hormone receptor gene is genetically linked to Laron dwarfism, a rare autosomal recessive syndrome caused by target resistance to GH. Nevertheless, the inability to express the corresponding full-length coding sequence and the lack of a test for growth-promoting function have hampered a direct confirmation of its role in growth. We have now identified three nonsense mutations within this growth hormone receptor gene, lying at positions corresponding to the amino terminal extremity and causing a truncation of the molecule, thereby deleting a large portion of both the GH binding domain and the full transmembrane and intracellular domains. Three independent patients with Laron dwarfism born of consanguineous parents were homozygous for these defects. Two defects were identical and consisted of a CG to TG transition. Not only do these results confirm the growth-promoting activity of this receptor but they also suggest that CpG doublets may represent hot spots for mutations in the growth hormone receptor gene that are responsible for hereditary dwarfism.

Dwarfism↗
PubMed1998

Dwarfism and gigantism in historical picture postcards.

A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits.

Acromegaly↗