PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Microcephaly”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,063 records · Page 59Linked to original sources
PubMed1993

Clinical manifestations and evaluation of isolated lissencephaly.

Lissencephaly ("smooth brain") is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.

Cerebral Cortex↗
PubMed1977

[Hypoplasia ponto-neocerebellaris (author's transl)].

In an otherwise healthy family three male infants fell ill with microcephaly, hypotonus of the muscles, non-specific hyperkineses, seizures, and rapid mental deterioration. In addition to microdysplasia in the cerebral cortex the main neuropathological findings were the separation of the dentate nucleus into many islets, an atypical band of the inferior olives, and deficiency of the pontocerebellar fibers in the basal part of the pons. The hypoplasia of the areas involved can be distinguished from the degenerative process in the dégénérescence systematisé optico-cochleo-dentelé (Nyssen-van Bogaert).

Brain↗
PubMed1979

Monosomy 10qter.

An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.

Child↗
PubMed1993

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.

We report three siblings born with severe neonatal encephalopathy, manifested clinically by microcephaly, myoclonus, and muscular hypertonus. Karyotypic analyses and all biochemical investigations were unrevealing. All three patients died during infancy. Postmortem examination of the brain in one child disclosed severe neuronal loss in the inferior olives and the pontine nuclei. There was also severe hypoplasia of the cerebellum and micrencephaly. There was diffuse gliosis of the white matter in all areas of the brain. We believe this may represent a previously undescribed form of familial infantile encephalopathy with olivopontocerebellar hypoplasia.

Brain↗
PubMed1975

A rare type of low birthweight dwarfism: the Dubowitz syndrome.

Two patients with the Dubowitz syndrome are presented. This presumably recessive inherited syndrome was first defined by Grosse et al. (1971). So far 11 patients with this syndrome have been described. Major clinical findings are intrauterine and postnatal growth retardation, considerable microcephaly, mild mental retardation, hyperactivity, hyperextensibility of joints, eczema and a characteristic appearance of the face due to marked epicanthic folds, blepharophimosis, broadening of the bridge and tip of the nose and retrognathia. Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen. The exclusion of the non genetic fetal alcohol syndrome presents serious diagnostic problems.

Birth Weight↗
PubMed1981

Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.

A mentally retarded female with aniridia, microcephaly and no other major malformations has been studied using G-banded prometaphase chromosomes. This study revealed a reciprocal translocation of chromosome 8 and chromosome 11 with one break point in 8q and two breakpoints in 11p. An interstitial segment of 11p is lost. Both parents have a normal karyotype. The importance of chromosome analyses of patients with aniridia and mental retardation is discussed.

Adult↗
PubMed1982

Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.

Abnormalities, Multiple↗
PubMed1977

Partial deletion of the long arm of chromosome no. 13.

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

Abnormalities, Multiple↗
PubMed1980

Severe fetal manifestation of hemifacial microsomia.

Hemifacial microsomia is a heterogenous complex lesion including predominantly unilateral face and head malformations mainly in the region of the first and second branchial arch, vertebral anomalies and varying accompanying malformations. A severe manifestation of this condition is demonstrated in a fetus by means of 5 mm thick sections of the whole head. Abortion had been induced because extreme microcephaly simulated fetal anencephaly in prenatal ultrasound examination. Alpha-Fetoprotein values were normal.

Abortion, Induced↗
PubMed1986

The Dubowitz syndrome.

The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.

Abnormalities, Multiple↗
PubMed1983

Pachygyria and congenital nephrosis disorder of migration and neuronal orientation.

A case of pachygyria with associated nephrosis has been studied. Several microscopic abnormalities have been identified: cytoarchitectonic disorders including neuronal ectopies in the molecular layer and in the meninges, improperly oriented neurons shown with Golgi stain, fetal aspect of inferior olives. The mechanism of the disorder of migration and neuronal and dendritic orientation are discussed. The significance of the association of microcephaly and nephrosis is also reviewed in light of recent literature.

Brain↗
PubMed1985

Congenital absence of pyramids and its significance in genetic diseases.

Bilateral absence of the pyramids, best assessed in transverse sections of the medulla oblongata, was found in 0.7% of 2,850 autopsies performed at the Royal Children's Hospital, Melbourne (Australia). A strong association with some forms of congenital aqueductal stenosis was observed and evaluated in further cases ascertained through other hospitals. The very strong association observed with X-linked congenital aqueduct stenosis may be useful diagnostically but must be evaluated in other centres. At least, the presence of pyramids seems strong evidence against this diagnosis. Absence of the pyramids was also observed in several known or new genetic syndromes - Meckel's syndrome, the HARD syndrome, two sisters with congenital aqueductal stenosis and polydactyly and two families with microcephaly and arthrogryposis.

Abnormalities, Multiple↗
PubMed1975

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

A fairly constant constellation of roentgen anomalies has been detected in the skeleton of 9 patients with the trisomy of the short arm of chromosome No 4. The more common changes involve the skull, spine and pelvis, while the limbs, as well as the internal organs, are less affected. Microcephaly, hypertelorism, small and closed sella, malocclusion, scoliosis, "square" vertebral bodies, narrow iliac wings, wide iliac angles and narrow acetabular ones, coxa valga, medial recumbency of the proximal tibial epiphysis and retarded bone age are usual findings.

Chromosome Aberrations↗
PubMed1980

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiography.

The transverse diameter fo the foramen occipitale magnum (f. o. m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation are all above the norm, irrespective of whether or not there is a concomitant hydrocephalus.

Adolescent↗
PubMed1990

Maternal phenylketonuria--the Irish experience.

The outcome of 48 pregnancies in 18 women with elevated phenylalanine was studied. The women were divided into two groups, diet and non-diet. All the women on diet had severe hyperphenylalaninaemia and only six were on the amino acid mixture at conception. In the non-diet group four women had concentrations of less than 1000 mumols/L and five had severe hyperphenylalaninaemia. Three deaths and one stillbirth occurred in the non-diet group. Microcephaly occurred in 24 children; 11 in the diet group and 13 in the non-diet group. There were five miscarriages in the non-diet group and one in the diet group. Diet is beneficial when started early but planned pregnancies, good motivation and compliance were difficult to achieve in this group of women despite every reasonable effort by the PKU clinic.

Abortion, Incomplete↗
PubMed1996

Co-existence of Dubowitz and hyper-IgE syndromes: a case report.

UNLABELLED: A case of a 5-year-old girl is described whose clinical features included postnatal growth retardation, microcephaly and characteristic facial appearance. These are recognized as the main features of the Dubowitz syndrome. Apart from these features, our patient had recurrent infections of the sinopulmonary tract, high serum IgE levels, defective chemotaxis of polymorphonuclear cells and defective antibody response, findings characterizing the hyper-IgE syndrome. The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature. CONCLUSION: Patients with the Dubowitz syndrome will Dubowitz syndrome will require long-term follow up because there is a considerable risk for the syndrome to co-exist with primary immunodeficiency or for malignancies to develop.

Child, Preschool↗