Clinical and neuropathological findings in monozygous twin sisters are reported. Twin I died at age 5 months from a cerebellar medulloblastoma, whereas her sister died at age 16 months from a pineoblastoma. The tumors are considered similar referring to histogenesis, structural peculiarities and growth. Therefore, the twins are seen as concordant for the tumor type.

Autopsy↗

PubMed1975

[Letter: Lefthandedness].

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Age Factors↗

PubMed1975

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

Abnormalities, Multiple↗

PubMed1975

Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy.

Two patients with a virtually identical physical examination syndrome are reported. Both had severe microbrachycephaly, profound mental retardation and athetoid cerebral palsy. The anomalies include prominence of forehead, hypoplastic midface, mandibular prognathism, apparent midline "cleft" of mandible with absence of lower central incisors, ear and eye anomalies, growth failure, and various similar secondary anomalies due to hypotonia, cerebral palsy and immobilisation. The patients probably represent a "new" MCA/MR syndrome, the etiology of which is still unknown. A genetic cause, i.e., a gene mutation with pleiotropic effects, is suggested. This may involve an autosomal recessive trait, an autosomal dominant new mutation, or an X-linked dominant-hemizygous lethal trait.

Abnormalities, Multiple↗

PubMed1975

[The value of motor tests in neuro-developmental diagnosis].

Recording and judgment of (psycho) motor behavior are important tools in developmental and neuropediatric diagnosis: During infancy and early childhood the developmental course of various motor functions has to be registered, and the alterations of spontaneous or provoked movements have to be assessed by neuropediatric evaluation. Present knowledge of underlying neurophysiological mechanisms is scarce; therefore, in the stage of collecting data, it is essential to gather information about motor phenomena by a valid and comprehensive assessment of motor skills and movement patterns together with the modifying and influencing variables. Motoscopic methods are useful in recording motor skills and movement patterns; however, they are influenced by subjective errors depending on the examiner's training and experience. Motometric tests yield information about the coordinative functions and gross motor skills (e.g. body coordination test; KTK) or about manual dexterity and fine motor functions (e.g. the "insertion test"; Gleiss). For an objective recording of motor performance and particularly for assessment of the course of movements in performing motor tasks motographic methods are necessary (e.g. diadochometry). Problems and possibilities of these (psycho) motor tests are discussed briefly. Development and application of motodiagnostic methods are still in an early stage so that conclusions about underlying neurophysiological mechanisms have to be drawn very carefully, e.g. in the diagnosis of so-called cerebral dysfunction.

Brain Damage, Chronic↗

PubMed1975

Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.

A previously apparently undescribed "syndrome" is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.

Cerebral Palsy↗

PubMed1975

Methods of assessing and recording motor skills and movement patterns.

The literature in different fields of assessment and recording motor skills and movement patterns in children is reviewed and various methods of movement analysis are discussed from a clinical and instrumental point of view. Their advantages and disadvantages in the study of motor development and in neuropaediatric diagnosis and research are considered. The methods chosen for a special purpose, whether a motoscopic, motometric or motographic technique, depend on what the investigator wants to study and on the available facilities, and is also influenced by the degree of co-operation of the patient. Whatever technique is used, the results obtained must enable comparisons to be made with later assessments as that valid statements about the child's progress become possible.

Adult↗

PubMed1975