Russell-Silver dwarfism

A case of Russell-Silver dwarfism is described with intrauterine dwarfism, craniofacial disproportion, congenital asymmetry of the body, triangular face, retro- and micrognathia and short incurved fifth fingers. This child has numerous ocular abnormalities including microphthalmia, tunica vasculosa lentis, chronic angle closure glaucoma and retinal degeneration with detachment. The glaucoma was controlled with miotic therapy following an iridectomy.     

The syndrome of abuse dwarfism (psychosocial dwarfism or reversible hyposomatotropism)

In abuse dwarfism the behavioral signs include some or all of the following: (1) a history of unusual eating and drinking behavior, reversible on change of domicile, such as eating from a garbage can and drinking from a toilet bowl, stealing food, alleged picky eating and rejecting food at the table, polydipsia and polyphagia, possibly alternating with vomiting and possibly also with self-starvation; (2) a history of such behavioral symptoms as enuresis, encopresis, social apathy or inertia, defiant aggressiveness, sudden tantrums, crying spasms, insomnia, eccentric sleeping and waking schedule, pain agnosia, and self-injury, all occurring only in the growth-retarding environment; (3) retarded motor development, with improvement on removal of the child from the domiclle of abuse; (4) retarded intellectual growht, reversible on change of domicile by as much as 30 to 50 IQ points; and (5) a history of pathologic family relationships, including unusual cruelty and neglect, either somatic or psychic or both.     

A form of metatropic dwarfism in two brothers

A randomized, prospective study design compares the small Dalkon shield and the Copper T 200 (T Cu 200) intrauterine contraceptive devices in nulligravid women in the same clinic population during a 12-month period. This prospective study demonstrates statistically significant differences in the accidental pregnancy, expulsion and medical removal rates between the two devices. In nulligravid patients the T Cu 200 had lower event rates than the small shield in the categories of accidental pregnancy and medical removals for bleeding and pain.     

Mice lacking link protein develop dwarfism and craniofacial abnormalities

Link protein (LP), an extracellular matrix protein in cartilage, stabilizes aggregates of aggrecan and hyaluronan, giving cartilage its tensile strength and elasticity. Cartilage provides the template for endochondral ossification and is crucial for determining the length and width of the skeleton. During endochondral bone formation, hypertrophic chondrocytes die and the cartilage is replaced with bone matrix. Here, we have generated targeted mutations in mice in the gene encoding LP (Crtl1). Homozygotes showed defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Most Crtl1(tm1Nid/tm1Nid) mice died shortly after birth due to respiratory failure, but some survived and developed progressive dwarfism and lordosis of the cervical spine. They showed small epiphysis, slightly flared metaphysis of long bones and flattened vertebrae, characteristic of spondyloepiphyseal dysplasias. The cartilage contained significantly reduced aggrecan depositions in the hypertrophic zone, and decreased numbers of prehypertrophic and hypertrophic chondrocytes. Reduced Indian hedgehog (Ihh) expression was observed in prehypertrophic chondrocytes, and apoptosis was inhibited in hypertrophic chondrocytes. These results indicate that LP is important for the formation of proteoglycan aggregates and normal organization of hypertrophic chondrocytes, and suggest that cartilage matrix has a role in chondrocyte differentiation and maturation.     

Thanatophoric dwarfism. Pathogenesis of the respiratory insufficiency in this abnormality

Report on a thanatophoric dwarfism, which is a variety of achondroplasia. New born children with this failure are not able to survive the first few days after birth. This early death is due to a cardiorespiratory deficiency as a consequence of the extremely short ribs but also of the abnormal cartilaginous growth in the wall of bronchi and bronchioles. In this present case of the thanatophoric dwarfism the question is discussed in how far the disorder of the bronchial cartilage is the basis of the respiratory distress.     

Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse

Mice deficient in hepatocyte nuclear factor 1 alpha (HNF-1alpha) were produced by use of the Cre-loxP recombination system. HNF-1alpha-null mice are viable but sterile and exhibit a phenotype reminiscent of both Laron-type dwarfism and non-insulin-dependent diabetes mellitus (NIDDM). In contrast to an earlier HNF-1alpha-null mouse line that had been produced by use of standard gene disruption methodology (M. Pontoglio, J. Barra, M. Hadchouel, A. Doyen, C. Kress, J. P. Bach, C. Babinet, and M. Yaniv, Cell 84:575-585, 1996), these mice exhibited no increased mortality and only minimal renal dysfunction during the first 6 months of development. Both dwarfism and NIDDM are most likely due to the loss of expression of insulin-like growth factor I (IGF-I) and lower levels of insulin, resulting in stunted growth and elevated serum glucose levels, respectively. These results confirm the functional significance of the HNF-1alpha regulatory elements that had previously been shown to reside in the promoter regions of both the IGF-I and the insulin genes.     

Acromesomelic dwarfism: description of a patient and comparison with previously reported cases

SPF-male rats were treated intraperitoneally with phenobarbital (30 mg/kg/day) or 0.9% sodium chloride for 4 days. Endogenous creatinine clearance in conscious rats and inulin clearance in nondiuretic rats under inactin anesthesia were measured 24 hr following the last injection. In an additional group of treated rats diuresis was induced by sodium chloride and mannitol and then inulin- and PAH clearance were measured simultaneously. Following 4 days treatment with phenobarbital, endogenous creatinine clearance and inulin clearance were not significantly different in control and phenobarbital-treated animals. In contrast significant changes were found in urine volume and PAH clearance in the phenobarbital-treated animals. These results do not reflect any change in glomerular filtration rate, but might be attributed to an increase in renal plasma flow or an activated tubular transport system following phenobarbital administration.     

Oral manifestations of severe short-limb dwarfism resembling Grebe chondrodysplasia: report of a case

The oral and dental abnormalities associated with a distinct variety of severe short-limb dwarfism are described. The patient, a 9-year-old Arab boy, had delayed development and eruption of teeth, severe oligodontia of permanent dentition, hypodontia, microdontia, supplemental incisor, enamel hypoplasia of primary teeth, doubled and abnormal frenal attachments, bifid uvula, hypoplastic maxilla, and malocclusion. Clinical and radiographic examinations revealed asymmetric dysplasia and anaplasia of long bones, craniofacial dysmorphia, prominent forehead, budlike fingers and bulbous toes, dysplastic nails, severe hearing loss, and reduced joint mobility. These features resemble, in general, those characteristic of Grebe chondrodysplasia, an extremely rare ill-defined syndrome that is inherited as an autosomal-recessive disorder.     

Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance

Previous observations suggested that pituitary dwarfism of German Shepherd dogs is due to simple, autosomal recessive inheritance, but own data were insufficient to test the hypothesis. The total material now includes six dwarfs from five litters. Omitting the proband litter, a total of 21 dogs from four litters, each with one dwarf, were relevant for testing goodness of fit. The observed segregation ratio was in agreement with that expected and thus supported the genetic hypothesis. According to this hypothesis it was possible to point at various heterozygous carriers among ancestors of the dwarfs within a pedigree comprising 13 generations.     

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature

Although lymph node metastasis is a major prognostic factor in gastric cancer, the optimal extent of lymph node dissection still remains a subject of debate. The influence of extended D2 lymphadenectomy on morbidity and long-term survival is controversial. Reports from many Japanese and some Western institutions show similar morbidity and mortality rates for both limited D1 and extended D2 resections. However, the four available randomised trials show a significant increase in operative morbidity and mortality after a D2 resection. The authors of these trials believe that distal pancreaticosplenectomy is responsible for this increased morbidity and mortality and not the lymphadenectomy itself. Retrospective and prospective non-randomised studies show superior stage (II/IIIA) specific survival rates after D2 resections. However, these studies did not eliminate stage migration and randomised trials failed to show any survival advantage in favour of the D2 resection. Current data suggest that D2 resection is beneficial to the subgroup of patients with N1 or N2 disease undergoing potentially curative resection. However, Western studies that support D2 resection, fail to show any survival advantage for D2 resection in N2 patients, reporting a benefit only to N0 or N1 patients. In contrast, Japanese series report a large number of N2 long-term survivors. The question as to the possible beneficial effect of extended lymphadenectomy in gastric cancer is difficult and complex. D2 resection increases the potentially curative resection rate, at least in N2 patients, achieves a better locoregional tumour control and provides the only chance for cure among N2 patients since adjuvant treatment in gastric carcinoma has not yet been proved effective. However, all randomised comparisons warn of an increased risk after D2 resection. By avoiding pancreaticosplenectomy, however, the morbidity can be within acceptable limits. D2 gastrectomy seems to be the most attractive procedure in the surgical management of gastric cancer.     

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism

Patients with idiopathic intracranial hypertension may occasionally present with coexisting lower motor neuron facial weakness. This study reviews a 6-year experience at Mayo Clinic. The aim of this study was to determine the possible association of idiopathic intracranial hypertension and facial paresis. Two cases were identified. Both fulfilled the modified Dandy's diagnostic criteria for idiopathic intracranial hypertension. Treatment consisted of steroids in one, and emergent optic nerve sheath fenestration in the other. The cranial nerve palsies resolved in both cases.     

The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

PURPOSE: To observe the effects of improved silica ball implantation enclosed by autologous reversal sclera. METHODS: After the enucleation of eye balls, we reversed, cleared the autologous sclera, enclosed the silica ball and implanted it in the operative eye. RESULTS: 30 cases with enucleation were implanted the prosthetic eyes. The follow-up period was 6 months to 3 years. The prosthetic eyes had the motility of 10 degrees to 25 degrees and the empty socket syndrome was effectively prevented. CONCLUSION: The sargical method can overcome the defect that prosthetic eyes cannot rotate after being implanted and has got satisfactory cosmetic effects.     

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

A standard electrical stimulus applied to the posterior hypothalamus evoked cardiac arrhythmogenic responses in the spontaneously hypertensive rat. Isolated premature ventricular beats or doublets and nonsustained ventricular tachycardic salvos were observed. This effect was associated with a large rise in blood pressure (79 +/- 3 mm Hg). The same stimulus in normotensive Wistar-Kyoto rats produced no significant cardiac arrhythmias, and the rise in blood pressure was smaller (36 +/- 2 mm Hg). We investigated the influence of baclofen, a GABAB receptor agonist, and two N-methyl-D-aspartate receptor antagonists on the arrhythmogenic response to hypothalamic stimulation. Intravenous baclofen (3 mg/kg) had no effect in the normotensive Wistar-Kyoto rats, but in the spontaneously hypertensive rats it enhanced the adjusted mean value of the number of extrasystoles from 0.5 +/- 0.5 to 18 +/- 1 (P < .001). This value was also increased (from 3 +/- 1 to 17 +/- 1, P < .001) by an intracisternal injection of baclofen (1 micrograms/kg). This facilitatory effect of baclofen was prevented by treatment with atenolol (0.5 mg/kg). Two glutamate receptor antagonists, ketamine (7.5 mg/kg IV) and kynurenic acid (200 micrograms/kg intracerebroventricularly), prevented both the arrhythmogenic response to the hypothalamic stimulation and its facilitation by baclofen. The study confirms that hypothalamic stimulation facilitates the development of arrhythmias through a sympathetic drive and that these arrhythmias are easier to induce in spontaneously hypertensive rats than in normotensive Wistar-Kyoto rats. Both the central GABAergic and the glutamatergic systems are implicated in the development of these ventricular arrhythmias, since baclofen could disinhibit the glutamatergic central pathway. These results could account for the ability of the spontaneously hypertensive rats to develop ventricular arrhythmias of central origin.