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At least 19 recordsLinked to original sources
PubMed1978

[Dwarfism and constrictive pericarditis. Apropos of a case of so-called Mulibrey dwarfism with hypereosinophilia].

A child of 10 was admitted to a cardiology unit with adiastole. The marked degree of dwarfism and anatomical features were characteristic of the so-called 'Mulibrey' dwarfism. Surgical intervention confirmed the constrictive pericarditis which is normally found in this condition. Unfortunately, the adiastole persisted which, taking into account the marked eosinophilia, made an associated endomyocardial fibrosis seem likely. The distinctive features of constrictive pericarditis and of the constrictive type of cardiomyopathy are recalled.

Cardiomyopathies↗
PubMed1977

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.

Adolescent↗
PubMed1978

Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism.

Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis. Some cases are seen with occipital exencephalocele. The long bones are short and bent with metaphyseal flaring. The vertebral bodies are of different size and many consist of separate ossified masses. The iliac bones are small with hypoplasia of the horizontal and inferior margina. Maturation of cartilage cells at the epiphyseal plates is grossly disturbed and there are puddle-like spaces among the resting cartilage cells.

Abnormalities, Multiple↗
PubMed1977

Dyssegmental dwarfism: a new syndrome of lethal dwarfism.

Dyssegmental dwarfism is an autosomal, recessively inherited, lethal, generalized chondrodysplasia characterized by micromelia, cleft palate, and variable limited mobility at the elbow, wrist, hip, knee, and ankle joints and, in some cases, by occipital encephalocele, inguinal hernia, hydronephrosis, hydrocephalus, and patent ductus arteriosus. Roentgenographically, there is a marked variation in the size of all vertebrae with some anterior wedging, coronal clefts, and lack of caudal interpediculate widening. In addition, there are short, broad tubular bones with metaphyseal widening, variable bowing of the tibia, fistula, femur, radius, and minimally the ulna. In the feet, the talus and calcaneus are poorly modeled, and the 1st metatarsal and 1st proximal phalanx are enlarged. The striking similarities among these cases, as well as the others in the literature, argue strongly for their being a common defect in embryogenesis. However, there is also evidence of heterogeneity. Our case reported here has distinct hypoplasia of the scapulae, absence of carpal ossification centers, and lack of flaring of the ilia, whereas the other cases show well-developed scapulas, accelerated carpal bone maturation, and a wide-flared ilia.

Diagnosis, Differential↗
PubMed1976

Parastremmatic dwarfism.

A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance.

Bone Diseases, Developmental↗
PubMed1978

[Thanatophoric Dwarfism (author's transl)].

Four cases of thanatophoric dwarfism which appeared between 1974 and 1977 are described. Thanatophoric dwarfism was firstly described in 1967. In the mean-time there are reports about 44 cases. The frequency of thanatophoric dwarfism is considered to be 1 to 6393 newborns. There is no clear evidence about the occurrence of thanatophoric dwarfism, chromosone patterns have been always normal. This type of dwarfism is differentiated from other similar syndromes.

Diagnosis, Differential↗
PubMed1976

[A new (brachymelic) type of primordial dwarfism (author's transl)].

Second report of an apparently new type of primordial dwarfism characterized by severe intrauterine and postnatal growth retardation, striking craniofacial deformities and a peculiar osteochondrodysplasia. The major clinical findings are microcephaly, hypotrichosis, bulging eyes, prominent nose, micrognathia and short extremities. The osteochondrodysplasia is characterized by short and bowed humeri and femora with absent ossification of the femoral necks, small and dysplastic iliac wings, strikingly retarded ossification of the epiphyses and shortened metacarpal I and middle phalanges II-V. Possible this condition is caused by the homozygous state of mutant gene. The brachymelic type of primordial dwarfism differs from other forms of primordial dwarfism (particularly from case I of Seckel) by its skeletal abnormalities. The cases described by Seckel (and sometimes referred to as Seckel or bird-headed dwarfism) are heterogenous: Seckel dwarfism apparently does not exist as a nosologic entity.

Abnormalities, Multiple↗
PubMed1976

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.

Adult↗
PubMedDate not supplied

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.

Metatropic dwarfism, the Kniest syndrome, and pseudoachondroplastic dysplasia are specific chondrodystrophic disorders that have in common dysplasia of the metaphyses, epiphyses, and vertebrae. Metatropic dwarfism and the Kniest syndrome have been confused with Morquio's disease and with each other in the past, but can be easily distinguished on the basis of radiographic features, clinical features, and cartilage pathology. The pseudoachondroplastic dysplasias are associated with short limbed dwarfism and have been confused with achondroplastic dwarfism, but can be readily distinguished on the basis of the normal head, delayed age of onset, the typical radiographic features and the cartilage pathology.

Cartilage↗
PubMed1978

[Familial mesomelial dwarfism (Nievergelt syndrome)].

Familial mesomelic dwarfism was first described in 1944 by K. NIEVERGELT, who reported on a father and 3 sons by 3 different mothers who had shortening of the middle segment limbs. in the present study the family described by NIEVERGELT in 1944 is reevaluated and the mode of inheritance investigated over a period of 3 generations. Six patients with mesomelic dwarfism were found out of 43 family members. Two patients, a son of the first patient with mesomelic dwarfism and his son, were seen at our institution. Both presented a rare deformity-combination of the upper and lower extremities. In the upper extremities radio-ulnar synostosis, asymmetrically shaped elbow joints, subluxations of the radial head and a deficient supination capacity of the forearm were diagnosed. The deformities were nearly symmetrical, but a slight predilection for the left forearm was noted. In the lower extremities atypical club-feet with supination of the forefeet, shortening of tibia and fibula and marked synostosis of tarsal and metatarsal bones were seen. The legs were rhombic and supination and pronation of the forefeet were severely reduced. Synostosis of the tibia and fibula and deformities of the toes were found in both patients. The mode of inheritance was considered to be autosomal dominant with high penetrance. It is concluded that familial mesomelic dwarfism is an autosomal dominant disease of the upper and lower limbs with atypical club-feet, marked radio-ulnar, tibia-fibular and tarsal synostosis and deformities of the elbow joints.

Chromosome Aberrations↗
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↗
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↗