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PubMed1974

The syndrome of familial dwarfism and high plasma immunoreactive human growth hormone.

In 1966 we described a syndrome of familial dwarfism which was indistinguishable both clinically and in many of the laboratory findings from pituitary dwarfism, but in which there were abnormally high plasma concentrations of immunoreactive human growth hormone (IR-HGH). The possibility was raised that in these cases the circulating growth hormone is biologically inactive. Additional patients were described two years later, and in recent years we have reported additional clinical and laboratory findings in these and newly-discovered patients, all of whom were of Jewish origin. Subsequently, this syndrome was detected in non-Jewish populations.

Adolescent↗
PubMed1979

[The endocrine psychosyndrome in the long term. III. A catamnestic reexamination of patients suffering from hypothalamo-hypopituitary dwarfism (author's transl)].

Fifteen patients (4 females and 11 males) with hypothalamo-hypopituitary dwarfism underwent extensive psychiatric investigation in 1962-1965. A follow-up study of the personality development and social conditions was made in 1977. The age of the patients ranged from 31 to 56 years (the average being 40). As before, the main finding was an infantile personality with a defective psychosexual maturity. Only a few patients had reached a somehat adult, independent personality in spite of hormonal deficiencies. Several patients had continued to grow and attained a stature slightly below average. However, this subsequent growth scarcely influenced personality development. Depressive moods are now more frequent than before and among the more differentiated patients, the neurotic symptoms are mainly phobic fears. Almost all of the patients have discontinued treatment with hormonal substitutes (androgenes, cortison, thyrotropic hormone) inspite of persistent deficiency symptoms, because the outcome did not match their high expectations. The symptoms of the endocrine psychosyndrome seem of minor importance compared with the psychic infantilism and the reactions to the experience of dwarfism and missing puberty. One female has suffered several psychotic episodes which were understood as being partially of endocrine origin.

Adult↗
PubMed1978

[Bird-headed-dwarfism. A case report (author's transl)].

The case history and symptoms of a girl aged 12 months are reported suffering from bird-headed-dwarfism or Seckel-Syndrom: low birth weight in spite of prolonged pregnancy, typical "bird-headed-face", mikrocephaly, dwarfism, dystrophy, mental-motoric retardation.

Abnormalities, Multiple↗
PubMedDate not supplied

[Severe dwarfism with high plasma hGH levels and no somatomedin acitvity: Laron's syndrome (author's transl)].

A case of Laron type dwarfism which is reported describes a clinical picture of isolated previous deficiency in growth hormone. But serum level of this hormone is found to be high both in regard to basic value and after ornithin stimulation. The somatomedin activity of the child serum was studied by two methods: biological assay and binding assay. This activity was found to be non-existent both in regard to basic conditions and after injection of hGH corroborating the diagnosis of dwarfism of Laron type.

Child↗
PubMedDate not supplied

Hereditary dwarfism in pigs.

In a swine production herd dwarfs with extremely short limbs were observed in 3 litters sired by the same boar. Clinical, radiographical, and pathologic-anatomical examinations, showed the affected individuals to be chondrodysplastic dwarfs. Such dwarfism has not been reported previously in pigs. An inbreeding experiment conducted with a dwarf gilt and related boars indicated that the dwarfism was hereditary with a simple autosomal recessive inheritance.

Animals↗
PubMed1984

[Psychosocial dwarfism--a rare form of growth disorder].

Psychosocial dwarfism is a syndrome caused by emotional deprivation (maternal deprivation), characterized by symptoms of delayed motor and intellectual development, abnormal eating and drinking habits, enuresis and encopresis, aggressiveness and a pathological family structure. Diagnosis of psychosocial dwarfism is easy if the case history is carefully elicited and the growth hormone level is determined within the first few days following change in environment (e.g. hospitalization). Difficulty in reaching the correct diagnosis or misdiagnosis can occur if the symptomatology is not studied in its entirety. Diagnosis at the earliest possible stage is very important for the further development of the child, since behavioural disturbances and growth retardation are reversible with environmental change. This is demonstrated by the presentation of the case history of a 6 year-old boy--the third case reported in the German literature.

Child↗
PubMed1983

Pituitary dwarfism in mice persistently infected with lymphocytic choriomeningitis virus.

Most strains of mice injected intracerebrally with lymphocytic choriomeningitis virus grow to adulthood maintaining a persistent virus infection associated with chronic virus-induced immune complex disease. However, mice on a k background are highly susceptible to neonatal infection and develop the clinical syndrome of pituitary dwarfism and hypoglycemia. Examination of pituitary tissue fails to reveal morphologic alteration by light and electron microscopy. Within the pituitary, viral antigens are exclusively distributed within the cells of the adenohypophysis. Using ultrastructural colloidal gold-labeling techniques, we demonstrate the presence of mature virus particles budding from the surface of growth hormone containing cells from the pituitary. This study indicates that persistent lymphocytic choriomeningitis virus infection of the growth hormone cells in susceptible mice is associated with pituitary dwarfism without producing visible structural damage.

Animals↗
PubMed1978

[Mesomelic dwarfism. Pronounced form in a female infant of a father with dyschondrosteosis and a mother with Madelung's deformity].

A serious form of mesomelic dwarfism was observed in a 4 1/2-month-old girl whose parents (first cousins) presented dyschondrosteosis and Madelung's deformity respectively. The radiological findings in all three subjects are discussed. It is suggested that the three morbid forms are expressions of the some genotypical alteration, probably at the homozygote status of mesomelic dwarfism.

Adult↗
PubMed1981

[Dyssegmental dwarfism--report on two cases (author's transl)].

Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.

Abnormalities, Multiple↗
PubMed1976

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.

Cataract↗
PubMed1993

[Type II primordial microcephalic dwarfism. Report of a patient with completed growth].

Type II primordial microcephalic dwarfism is a rare form of bird-headed dwarfism individualized in 1982 by Majewski. A case in a female patent with completed growth illustrates the main features, which include severe growth retardation (greater than 4 SD reduction in height) of prenatal onset, short limbs, coxa vara with epiphysiolysis of the hips, metaphyseal flaring and, in some instances, shortness of the ulnas and curvature of the radiuses. A genetic cause (with autosomal recessive inheritance) is very likely. A number of features in the case reported herein may be of pathogenetic relevance: growth hormone levels were elevated before closure of the epiphyses and normal thereafter, no growth spurt occurred at puberty, polycystic ovaries with hirsutism developed after puberty, and surgical wound healing was unusually slow.

Adolescent↗
PubMed1996

Leg lengthening in Turner dwarfism.

We have reviewed 16 patients treated by leg lengthening for various forms of Turner dwarfism with regard to the long period of healing and the complications. We consider that Turner dwarfism is a suitable indication for leg lengthening because of the moderate length deficit and the morphological appearance of the patients, and have introduced an improved programme of management to deal with the problems encountered.

Adolescent↗
PubMed1996

Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons.

Expression of human growth hormone (hGH) was targeted to growth hormone-releasing (GRF) neurons in the hypothalamus of transgenic rats. This induced dominant dwarfism by local feedback inhibition of GRF. One line, bearing a single copy of a GRF-hGH transgene, has been characterized in detail, and has been termed Tgr (for Transgenic growth-retarded). hGH was detected by immunocytochemistry in the brain, restricted to the median eminence of the hypothalamus. Low levels were also detected in the anterior pituitary gland by radioimmunoassay. Transgene expression in these sites was confirmed by RT-PCR. Tgr rats had reduced hypothalamic GRF and mRNA, in contrast to the increased GRF expression which accompanies GH deficiency in other dwarf rats. Endogenous GH mRNA, GH content, pituitary size and somatotroph cell number were also reduced significantly in Tgr rats. Pituitary adrenocorticotrophic hormone (ACTH) and thyroid-stimulating hormone (TSH) levels were normal, but prolactin content, mRNA levels and lactotroph cell numbers were also slightly reduced, probably due to feedback inhibition of prolactin by the lactogenic properties of the hGH transgene. This is the first dominant dwarf rat strain to be reported and will provide a valuable model for evaluating the effects of transgene expression on endogenous GH secretion, as well as the use of GH secretagogues for the treatment of dwarfism.

Animals↗
PubMed1998

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

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1976

[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.

Bronchi↗
PubMed1996

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

The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported exhibit mutations in the transmembrane receptor domain. Although most hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this condition. In thanatophoric dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases, our series seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder.

Achondroplasia↗