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.

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.

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.

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.

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.

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.

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.

Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23.

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.

Reduction of adult height in tall girls.

Assessment of the results of treatment of tall girls with estrogens by comparing actual mature height with predicted mature height is unreliable, unless the accuracy of prediction has been tested in untreated tall girls. We report such an investigation in 14 tall girls who were treated with estrogens and in 14 untreated tall girls. Of the three prediction methods, those of Bayley and Tanner were reliable in our hands, whereas the method of Roche was less adequate. The mean reduction of height by treatment was about 7 cm using Tanner's method of prediction, 10 cm when Bayley's method was used. The standard deviation of the difference between actual and predicted height as found in untreated girls makes it hazardous to assess the amount of height reduction in the individual treated case with any certainty.

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis.

Growth hormone in blood sampled continuously during pentobarbitone-induced sleep in children.

Growth hormone has been estimated in blood sampled continuously in periods each lasting 30 min during the first 3-4 h of pentobarbitone-induced sleep in 69 children. With only two half-hour samples, almost the same information was obtained as with the estimation of growth hormone in all samples. In this way 95% of normally growing children showed growth hormone levels of 5 muU/ml of more. Children with growth retardation of unknown cause and overweight children showed on the average lower growth hormone levels, not rarely even below 5 muU/ml. Pituitary dwarfs all had maximum growth hormone levels of 3 muU/ml or less. Growth hormone levels during sleep may be normal in children who show negative results on provocation, while subnormal growth hormone levels during sleep have been encountered in some children with retarded growth who had a normal response upon provocation.

Anorexia nervosa with transient hypopituitarism.

A case is presented with sudden onset of cachexia and anorexia with hypopituitarism, starting early and progressing gradually. After about 15 months the patient recovered; first he lost the anorexia, then the endocrine functions and growth became normal. Conflicting reports about hypopituitarism in anorexia nervosa and similar syndromes may be due to lack of longitudinal observations and the transient nature of the endocrine disorders.