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Biomedical subjects

G Heremans

Publications and source records attributed to G Heremans.

11 recordsLinked to original sources
PubMed1988

Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.

In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.

Adolescent↗
PubMed1987

The Opitz hypertelorism-hypospadias syndrome. Further delineation of the spectrum of clinical findings.

In this paper we report three male patients with the Opitz hypertelorism-hypospadias syndrome. In addition to the typical morphological findings, signs of cerebral palsy related to dysmaturity and perinatal adaptation problems were present in two of them. This illustrates that this syndrome is a true multiple congenital anomaly/mental retardation MCA/MR syndrome with great variability in expression of clinical symptoms.

Adolescent↗
PubMed1986

A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients.

In this report we summarize the findings in a genetic-diagnostic survey of an institutionalized population of 173 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention for dysmorphology and neurological findings. A constitutional disorder, as the direct cause of the severe mental handicap, was found in 75 patients (43.35%). A detailed survey of the different data and findings are given, and compared with the results of previous studies.

Adolescent↗
PubMed1986

The Borjeson-Forssman-Lehmann syndrome. A family study.

The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck. Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X-linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.

Adolescent↗
PubMed1986

Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. The variability in clinical and radiological findings and the differences in prognosis indicate that this syndrome probably covers at the present time a heterogeneous group of different conditions.

Bone Diseases, Developmental↗
PubMed1985

The design and testing of a wire velocimeter.

The basic principles underlying the design of a velocimeter based on an unwinding wire, for use in athletics research, are discussed. It is shown by theoretical analysis that, in order to avoid runaway effects, the tension on the wire should be either high or low but not of intermediate strength. The low tension regime is shown to be theoretically the most favourable as it combines high accuracy of speed measurements in decelerated motion with insensitivity to resonance oscillations of the wire. Practical considerations concerning the ruggedness of the apparatus, however, favour the high tension regime. A modern apparatus incorporating microprocessors and working with thin nylon wire stretched by a force of the order of 1 N, i.e. in the high tension regime, has been constructed and tested. The test results show that the velocity of decelerated motions (up to decelerations of the order of 10 m s-2) can be faithfully recorded in the velocity range 0-15 m s-1. The relative error for the measurement of constant speed up to 15 m s-1 is about one in a thousand, which is very small and practically unattainable by other methods. An application to the study of the long jump is demonstrated and validated by the use of film analysis.

Humans↗
PubMed1980

Multiple synostosis syndrome.

A 2-year-old deeply mentally handicapped girl is reported with a multiple synostosis syndrome, as delineated by Maroteaux et al. (1972). Besides the multiple synostoses the peculiar facial dysmorphism and the hearing deficit allow, the clinical diagnosis of this apparently rare syndrome.

Child, Preschool↗