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PubMed2000

Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.

We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.

Age Factors↗
PubMed2000

Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism.

Combined pituitary hormone deficiency (CPHD) is an autosomal recessive inherited disease of German shepherd dogs characterized primarily by dwarfism. In mice and humans a similar genetic disorder has been described that results from an alteration in the gene encoding the transcription factor Pit-1. In this study we characterized the canine Pit-1 gene, determined the chromosomal localization of the Pit-1 gene, and screened dwarf German shepherd dogs for the presence of mutations in this gene. The full-length canine Pit-1 cDNA contained an open reading frame encoding 291 amino acids, 92 bp of 5'-untranslated region, and 1959 bp of 3'-untranslated region. The deduced amino acid sequence was highly homologous with Pit-1 of other mammalian species. Using a Pit-1 BAC clone as probe, the Pit-1 gene was mapped by FISH to canine Chromosome (Chr) 31. In dwarf German shepherd dogs a C to A transversion was detected, causing a Phe (TTC) to Leu (TTA) substitution at codon 81. This alteration was present neither in other canine breeds analyzed nor in other mammalian species. However, healthy German shepherd dogs were also homozygous for the mutant allele, indicating that it is not the primary disease-causing mutation. In addition, linkage analysis of polymorphic DNA markers flanking the Pit-1 gene, 41K19 and 52L05, revealed no co-segregation between the Pit-1 locus and the CPHD phenotype. These findings suggest that a gene other than Pit-1 is responsible for the pituitary anomaly in dwarf German shepherd dogs.

Amino Acid Sequence↗
PubMed1999

Localization of a locus responsible for the bovine chondrodysplastic dwarfism (bcd) on chromosome 6.

A hereditary chondrodysplastic dwarfism caused by an autosomal recessive gene has been reported in a population of Japanese Brown cattle. Affected calves show an insufficiency of endochondral ossification at the long bones of the limbs. In the present study, we mapped the locus responsible for the disease (bcd) by linkage analysis, using microsatellite markers and a single paternal half-sib pedigree obtained from commercial herds. Linkage analysis revealed a significant linkage between the bcd locus and marker loci on the distal region of bovine Chromosome (Chr) 6. The bcd locus was mapped in the interval between microsatellite markers BM9257 and BP7 or BMS511 with a recombination fraction of 0.05 and 0.06, and a lod score of 8.6 and 10.1, respectively. A comparison of genetic maps between bovine Chr 6 and human Chr 4 or mouse Chr 5 indicates possible candidate genes including FGFR3 and BMP3 genes, which are responsible for human chondrodysplasias and associated with bone morphogenesis, respectively.

Animals↗
PubMed1998

Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism.

This report concerns an autopsy case of megalencephaly exhibiting a unique combination of physical and brain malformations. A 4-year-old boy had a peculiar face, a severe reduction of subcutaneous adipose tissue, severe growth failure and frequent hypoglycemic episodes. These clinical features were compatible with leprechaunism; however, the absence of hyperinsulinemia and insulin resistance prevented the diagnosis of leprechaunism. The autopsy disclosed complex cardiac and brain malformations. Although hydrocephalus coexisted, the brain weight after complete removal of the cerebrospinal fluid was 2260 g, which was greater than the average brain weight of normal Japanese children of the same age. The neuronal density in the cerebral cortex was decreased, while the surface area of the cerebral cortex and white matter were greater than those in an age-matched control. There was cortical dysplasia in the frontal and parietal lobes. Endocrine tests and immunohistochemical analysis of the brain did not demonstrate any abnormalities in the hypothalamus-pituitary system. Megalencephaly can be associated with dwarfism, and this case is important for consideration of the interrelationship between neuronal proliferation and physical growth.

Brain↗
PubMed1996

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.

We have analyzed the human pituitary-specific transcription factor (Pit-1) gene using PCR amplification of DNA fragments that span intron III and contain portions of exons III and IV. A PCR restriction fragment length polymorphism (PCRFLP) was detected in intron III by RsaI digestion, which was used to assign the human Pit-1 locus to chromosome 3p by linkage analysis of the CEPH panel. Analysis of corresponding Pit-1 segments from six nonrelated probands with familial panhypopituitary dwarfism (FPD) did not reveal any alterations in size and co-segregation of Pit-1, or a tightly linked microsatellite marker (D3S1559), and FPD was excluded in all six kindreds. Our data (1) assign Pit-1 to human chromosome 3p by linkage, (2) provide a PCRFLP and identify a variety of tightly linked markers, for analysis of FPD, and (3) exclude Pit-1 defects as the basis of at least one form of FPD.

Alleles↗
PubMed1999

Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).

We report a 19-year-old male with Seckel syndrome (bird-like dwarfism) who presents with malignant hypertension associated with hypertensive nephrosclerosis, dilated cardiomyopathy, and a ruptured cerebral artery aneurysm. Although end-organ injury due to chronic hypertension occurs frequently in adults, no previous reports of renal insufficiency due to hypertension exist in children or adolescents. We speculate that this patient may have been particularly prone to hypertensive end-organ injury due to his extreme short stature.

Adult↗
PubMed2005

Dwarfism, occult spinal dysraphism, and presacral myxopapillary ependymoma with an epidermoid cyst in a child.

The authors present a case of a child with dwarfism that was noted to be developmentally delayed. Imaging revealed atlantoaxial instability, occult spinal dysraphism, and a presacral mass. Histopathology of the presacral lesion was that of a myxopapillary ependymoma with epidermoid cyst. We believe this to be the first report in the extant medical literature of this constellation of findings in the same patient. However, there are rare reports indicating a possible association of occult spinal dysraphism and the simultaneous occurrence of spinal ependymomas. Further case reports are necessary to discern whether these pathological entities are true low rate associations that the clinician should consider in their evaluation of these patients.

Cauda Equina↗
PubMed1995

Embryonic death, dwarfism and fetal malformations after irradiation of embryos at the zygote stage: studies on two mouse strains.

Female mice of the BALB/c and CF1 strains were mated and irradiated with various doses of X-rays 7 h after presumed fertilization. 18 days later, females were killed and their uteri examined for prenatal mortality at the different stages of development. Living fetuses were weighed and examined for the presence of external malformations. A number of them were also examined for skeletal anomalies. Radiation induced mainly a dose-dependent increase of the preimplantation loss in the BALB/c strain and of the early postimplantation loss in the CF1 strain. Embryos of the BALB/c strain were refractory to the induction of teratogenic effects after such preimplantation irradiation. In CF1 mice, the frequency of malformed fetuses increased regularly after irradiation, the difference with controls being significant for the doses of 10, 50 and 100 cGy. Dwarfism occurrence also appeared to be increased by irradiation in this strain, although the importance of this effect varied depending on the criterion chosen for the assessment of dwarfs. With the definition proposed in the present paper, the increase in the frequency of dwarfs paralleled that of malformed fetuses, being significant after doses of 50 and 100 cGy. Irradiation did not increase the frequency of skeletal anomalies. A careful examination of the various data obtained to data led us to conclude that radiation may possibly be teratogenic in several mouse strains, when administered as early as during the one-cell stage and, to a lesser extent, during the following preimplantation stages. However, early prenatal mortality will remain by far the greatest risk associated with an exposure to radiation during this period. Moreover, the relativity of the risk of abnormality due to such irradiation should be considered in the context of the high prevalence of developmental defects spontaneously occurring during human pregnancy.

Abnormalities, Radiation-Induced↗
PubMed1977

Abnormalities of tooth development in pituitary dwarfism.

Roentgenographic studies of the jaws and teeth in a group of forty-eight pituitary dwarfs showed the following abnormalities in the development of the teeth: 1. Delayed shedding of the deciduous teeth. 2. Absence of resorption of the roots of the deciduous teeth at the usual time. 3. Marked delay in eruption of the permanent teeth. 4. Retention of permanent teeth in the maxillary and mandibular shafts. 5. Development of the apical parts of roots of the retained permanent teeth and their growth toward the lower mandibular edge. 6. Displacement of the first molars from the mandibular shaft to rami. 7. Tilting of some of the retained teeth. 8. Small size of the maxilla and mandible with overcrowding of the teeth in these bones. 9. Complete absence of buds of the wisdom teeth, even in patients in the fourth decade of life. 10. Stimulation of development and eruption of the teeth after administration of anabolic drugs. These abnormalities when present in combination depend on growth hormone deficiency since they do not occur in other types of dwarfism.

Adolescent↗
PubMed1992

Plasma 1,25-dihydroxyvitamin D, insulin-like growth factor-1, calcium, magnesium and phosphorus concentrations in pregnant beef cows and calves from a herd with a known history of congenital joint laxity and dwarfism.

An investigation was undertaken to ascertain the possibility of a relationship between calcium, inorganic phosphorus, magnesium, 1,25-dihydroxyvitamin D [1,25(OH)2D], and insulin-like growth factor-1 (IGF-1) concentrations in blood plasma and occurrence of congenital joint laxity and dwarfism (CJLD) in young cattle. Pregnant cows were fed hay (30 cows) or grass silage (122 cows) during winter months (October 15 to calving in March). Blood samples were taken from cows on seven occasions during the experiment and 48 hours after calving, and from calves at birth, and at seven, 14 and 56 days old. Five per cent of calves born (six of 122) to cows fed grass silage and none born to cows fed hay were affected by CJLD. The diet and health status of calves were not significantly (P greater than 0.05) associated with the plasma concentration of 1,25(OH)2D. The plasma calcium concentration declined with age of the calves (P less than 0.05) but was not affected by the occurrence of CJLD. Plasma phosphorus and magnesium concentrations in calves born to cows fed silage were higher (P less than 0.05) than in those born to cows fed hay. At birth and seven days old, plasma phosphorus concentrations were higher (P less than 0.05) in CJLD-affected calves than in healthy calves but the plasma concentration of IGF-1 was not different (P greater than 0.05). It was concluded that the high plasma phosphorus concentrations in CJLD-affected calves and their dams could be related to the aetiology of the CJLD condition in calves.

Animals↗
PubMed1983

Growth of intelligence: failure and catch-up associated respectively with abuse and rescue in the syndrome of abuse dwarfism.

IQ change in association with change of environment occurred in a sample of 34 patients with a diagnosis of abuse dwarfism. Low and persistent impairment of IQ was associated with abuse. By contrast, IQ elevation was associated with rescue. Multiple regression analysis revealed that duration of rescue was the primary variable associated with IQ elevation; age and IQ level at rescue were secondary. IQ elevation was gradual and progressive over the years, as rescue was maintained. In abuse, the mean IQ was 66 (range, 36-101), and after rescue it was 90 (range 48-133). The greatest magnitude of change, from IQ 36 to 120, was in a girl between the ages of 3 yr 8 months and 13 yr 11 months.

Adolescent↗
PubMed1985

Linearization of human growth curves affords new classification of dwarfism.

We describe here a new technique for analyzing human growth curves using a first order kinetic representation. Plotting in ([h infinity-ht)/h infinity] vs time (where h infinity and ht represent the final and instantaneous heights) transforms growth curves into 3 linear phases and 2 interphases. These growth parameters can be quantitatively compared between normal individuals of the same gender, between different sexes, and between individuals of normal and aberrant growth. This analysis provides a new classification of dwarfism.

Anthropometry↗
PubMed2006

Insulin-like growth factor type-1 receptor down-regulation associated with dwarfism in Holstein calves.

Perturbations in endocrine functions can impact normal growth. Endocrine traits were studied in three dwarf calves exhibiting retarded but proportionate growth and four phenotypically normal half-siblings, sired by the same bull, and four unrelated control calves. Plasma 3,5,3'-triiodothyronine and thyroxine concentrations in dwarfs and half-siblings were in the physiological range and responded normally to injected thyroid-releasing hormone. Plasma glucagon concentrations were different (dwarfs, controls>half-siblings; P<0.05). Plasma growth hormone (GH), insulin-like growth factor-1 (IGF-1) and insulin concentrations in the three groups during an 8-h period were similar, but integrated GH concentrations (areas under concentration curves) were different (dwarfs>controls, P<0.02; half-siblings>controls, P=0.08). Responses of GH to xylazine and to a GH-releasing-factor analogue were similar in dwarfs and half-siblings. Relative gene expression of IGF-1, IGF-2, GH receptor (GHR), insulin receptor, IGF-1 type-1 and -2 receptors (IGF-1R, IGF-2R), and IGF binding proteins were measured in liver and anconeus muscle. GHR mRNA levels were different in liver (dwarfs<controls, P<0.002; dwarfs<half-siblings, P=0.06; half-siblings<controls, P=0.08) but not in muscle. IGF-1R mRNA abundance in liver in half-siblings and controls was 2.4- and 2.5-fold higher (P=0.003 and P=0.001, respectively) and in muscle tissue was 2.3- and 1.8-fold higher (P=0.01 and P=0.08, respectively) than in dwarfs. Hepatic IGF-1R protein levels (Western blots) in muscle were 2.5-fold higher (P<0.05) and in liver and muscle (quantitative immunohistochemistry) were higher (P<0.02 and P<0.07, respectively) in half-siblings than in dwarfs. The reduced presence of IGF-1R may have been the underlying cause of dwarfism in studied calves.

Animals↗
PubMed2005

Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism.

This study investigated whether ghrelin, a potent releaser of growth hormone (GH) secretion, is a valuable tool in the diagnosis of canine pituitary dwarfism. The effect of intravenous administration of ghrelin on the release of GH and other adenohypophyseal hormones was investigated in German shepherd dogs with congenital combined pituitary hormone deficiency and in healthy Beagles. Analysis of the maximal increment (i.e. difference between pre- and maximal post-ghrelin plasma hormone concentration) indicated that the GH response was significantly lower in the dwarf dogs compared with the healthy dogs. In none of the pituitary dwarfs, the ghrelin-induced plasma GH concentration exceeded 5 microg/l at any time. However, this was also true for 3 healthy dogs. In all dogs, ghrelin administration did not affect the plasma concentrations of ACTH, cortisol, TSH, LH and PRL . Thus, while a ghrelin-induced plasma GH concentration above 5 microg/l excludes GH deficiency, false-negative results may occur.

Animals↗
PubMed1976

Laron dwarfism: growth and immunoreactive insulin following treatment with human growth hormone.

A 13 1/2-year-old boy with features of growth hormone deficiency had elevated fasting plasma GH levels (5.7 to 66 ng/ml). Serum somatomedin values remained low despite treatment with human growth hormone. Plasma GH values were suppressed following oral administration of glucose and increased following insulin-induced hypoglycemia, L-dopa, and arginine. Chlorpromazine suppressed GH, both fasting and during IIH. These results suggest that the neuroendocrine mechanisms mediating GH secretion seemed to be intact. Peak plasma insulin levels increased in response to glucose administration after HGH suggesting that GH has a direct effect on the pancreatic beta cell which is not mediated by Sm. Plasma testosterone values increased to adult male levels, but there was inadequate secondary sexual response. Growth was enhanced by HGH and may have been due to testosterone and/or insulin. Although Laron dwarfism may result from a receptor defect, an abnormality in GH structure is also possible.

Adolescent↗
PubMed1977

Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.

The occurrence in a family of three spontaneous abortions and two siblings with Saldino-Noonan dwarfism supports an autosomal recessive etiology and raises the possibility of lethality early in utero. No long bones were visualized in radiographs at 19 weeks' gestation in the second affected pregnancy. highlighting the difficulties of distinguishing technical limitations from fetal anatomic abnormalities. Ultrasound studies demonstrated oligohydramnios. Radiologic prenatal diagnosis can rule out this condition prior to 20 to 24 weeks' gestation and affected fetuses can be suspected if not proved by radiographs and ultrasound examination.

Amniotic Fluid↗
PubMed1978

Familial ichthyosis, dwarfism, mental retardation, and renal disease.

The nonrandom association of congenital ichthyosis with neurologic impairment, ectodermal dysplasia, dwarfism, hypogonadism, and renal disease has prompted the review of numerous syndromes. The difficulties in characterization of syndromes in the absence of pathognomonic signs is discussed in relation to three siblings presented herein. Despite extensive investigation, underlying metabolic defects remain obscure.

Adult↗
PubMed1979

Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.

Twelve infants, initially considered to have thanatophoric dysplasia, were studied by a combined radiographic-histochemical-biochemical approach. Three distinct forms of platyspondylic lethal neonatal short-limbed dwarfism could be distinguished: (1) Thanatophoric type, (2) Torrance type, and (3) San Diego type. The latter two disorders had similar radiographic abnormalities that were clearly different from those of typical thanatophoric dysplasia. All three disorders had clearly different condroosseous histopathologic abnormalities. Preliminary biochemical studies have revealed different electrophorectic abnormalities in solubilized type II collagen chains of cartilage in each of these three disorders.

Dwarfism↗