Geoffrey C. Robinson

Dermatology Review : Hereditary Ectodermal Dysplasia Symptoms, Inheritance Patterns, Differential Diagnosis, Management

Patients and pedigrees of both the hi drotic and anhidrotic forms of hereditary ectodermal dysplasia are presented, to gether with a discussion of their clinical manifestations, genetic and management problems.Patients and pedigrees of both the hi drotic and anhidrotic forms of hereditary ectodermal dysplasia are presented, to gether with a discussion of their clinical manifestations, genetic and management problems.

Blindness Due to Optic‐nerve Atrophy and Hypoplasia in Children: an Epidemiological Study (1944–1974)

One hundred and nineteen ‘legally blind’ children with bilateral optic‐nerve atrophy and 20 children with optic‐nerve hypoplasia were evaluated. They had been born between 1944 and 1974, and lived in British Columbia, Canada.

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.

Summary The association of conductive hearing loss with the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip-palate) is decribed in one sporadic case and in a pedigree with four cases in three generations. Hypodontia was demonstrated in two and conductive hearing loss in three of the family members; in one of them there was congenital absence of the stapes and part of the incus.

Pili torti and sensory neural hearing loss

Summary This report describes the case of a childwith pili torti and congenital sensory neural hearing loss. This association has been described before and may represent a clinical variant of pili torti.

KLINEFELTER'S SYNDROME WITH THE XXYY SEX CHROMOSOME COMPLEX. WITH PARTICULAR REFERENCE TO PREPUBERTAL DIAGNOSIS.

The most common chromosomal complement in Klinefelters syndrome is 47 with the XXY sex chromosome complex. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelters syndrome before puberty when the small testes, gynecomastia, and other physical stigmata may become apparent. This paper describes two examples of Klinefelters syndrome with the XXYY sex chromosome complex, in one of which skeletal abnormalities led to chromosomal studies and the prepubertal diagnosis. In addition it is suggested that dermatoglyphic studies may provide a further diagnostic aid in the early recognition of these cases.

Hypotonia in the Blind Child

A type of hypotonia often observed during the examination of blind children is described, and its characteristics and etiological factors are discussed.

Day Care Surgery for Children: A Controlled Study of Medical Complications and Parental Attitudes

A population of 350 children requiring procedures potentially suitable for day care surgery was studied. Preoperatively, 18 of these patients were excluded from day care. The remaining 332 patients were assigned alternately to hospital and home care groups. There were 14 postoperative exclusions. Of the remaining 318 patients, it was possible to obtain 116 control-experimental pairs of children, each pair being matched for operation, sex, age, and occupational class. Comparisons between the two matched samples revealed that complications were at a miniman in both groups, which demonstrated the safety of day care. Studies of parental choice and attitudes towards conventional hospitalization and home care revealed that these were largely related to the type of care experienced by the children. Parents who experienced home care were favorably impressed and accepted it.

An Economic Study of Cost Savings on a Care-by-Parent Ward

Alternatives to inpatient care that improve quality of care and save money are desirable during periods of restraint on hospital budgets. One such alternative is the care-by-parent unit (CBPU) in which a parents stay on the ward can reduce costs by resuming nursing tasks, limiting unnecessary procedures, and encouraging early discharge. This study measured costs per case treated in the CBPU compared with the costs for similar patients treated in the inpatient nursing unit (NU). Average costs per episode were lower in the CBPU—33 per cent for general pediatrics, 13.5 per cent for tonsils and adenoids and 29 per cent for other surgery. These savings are capable of considerable expansion because more than half of the admissions to NU meet the criteria for admission to CBPU. If CBPU facilities were expanded, however, the savings estimated above would not follow automatically. New CBPU facilities must substitute for NU, not add to total utilization.

Hereditary spherocytosis in infancy

Summary A case of hereditary spherocytosis posed a difficult diagnostic problem during the first months of life. Spherocytosis was not observed during the neonatal period. The classification of the hemolytic anemia was partially obscured by the presence of a large proportion of donor blood. A normal family history contributed to the delay in diagnosis. The application of uncommonly used techniques, namely, osmotic fragility after incubation, the rate of autohemolysis, and red cell survival studies, elicited valuable information. The patient developed pneumococcal meningitis six weeks after splenectomy.

MATERNAL AGE AND CONGENITAL OPTIC NERVE HYPOPLASIA: A POSSIBLE CLUE TO ETIOLOGY

The maternal age of two groups of children with congenital handicaps, cerebral palsy and fetal alcohol syndrome (FAS), were examined and compared with a group of mothers of children with congenital optic‐nerve hypoplasia (CONH). The maternal age of children with CONH was significantly less than for the cerebral‐palsied children which, in turn, was significantly less than for the FAS children. In addition, about one‐half of the children with CONH had associated handicaps which clustered into four progressively more severe combinations. Maternal age and the occurrence of endocrine problems did not differ significantly among the clusters.