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Results for “DWARFISM”

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At least 19 recordsLinked to original sources
PubMed1993

Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.

A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.

Abnormalities, Multiple↗
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↗
PubMed1984

[Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism].

Acro-coxo-mesomelic dwarfism seems to be a new autosomal recessive entity, one compatible with survival. This severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. Other malformations are clubhand and foot, short malformed fingers, and reduced articular mobility of elbows and hips with radial and femoral dislocations. Skeletal X-rays show the following: delayed bone age; mesomelic shortening of the limbs with cubitus brevus, radius curvus, and mostly fibula agenesis; severe acromelic deformities with clinodactyly of the IIIrd, IVth, and Vth digits and brachyrhizophalangia of the IInd and Vth digits. Brachymetacarpia is diffuse, with a "squashed candle" appearance. The IInd metacarpals and the proximal phalanx of the Vth digits have a peculiar "butterfly wings" appearance. The toes are shortened with a "drumstick" appearance and phalangeal hypoplasia, mostly of the midphalanges; hip dislocation and dysplasia (coxomelic), with hypoplasia of the femoral head and a coxa vara cylindric neck.

Adolescent↗
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↗
PubMed1982

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear.

Child↗