Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

A crucial issue in genetic counseling is the recognition of nonallelic genetic heterogeneity. Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands, is usually inherited as an X-linked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1. The existence of an autosomal recessive form of the disorder had been proposed but subsequently had been challenged by the hypothesis that the phenotype of severely affected daughters born to unaffected mothers in these rare families may be due to marked skewing of X inactivation. Five families with possible autosomal recessive HED have been identified, on the basis of the presence of severely affected females and unaffected parents in single sibships and in highly consanguineous families with multiple affected family members. The disorder was excluded from the EDA locus by the lack of its cosegregation with polymorphic markers flanking the EDA locus in three of five families. No mutations of the EDA gene were detected by SSCP analysis in the two families not excluded by haplotype analysis. The appearance of affected males and females in autosomal recessive HED was clinically indistinguishable from that seen in males with X-linked HED. The findings of equally affected males and females in single sibships, as well as the presence of consanguinity, support an autosomal recessive mode of inheritance. The fact that phenotypically identical types of HED can be caused by mutations at both X-linked and autosomal loci is analogous to the situation in the mouse, where indistinguishable phenotypes are produced by mutations at both X-linked (Tabby) and autosomal loci (crinkled and downless).

Review of ectodermal dysplasias for nurses.

The purpose of this continuing education feature is to introduce nurses to a group of disorders called ectodermal dysplasias. The ectodermal dysplasias are genetic disorders that affect individuals from all ethnic groups. Most of the features of ectodermal dysplasias can be evaluated easily and useful information can be given to affected individuals and their families about the disorder and readily available treatment.

Prenatal diagnosis of the Klippel-Trenaunay-Weber syndrome.

The Klippel-Trenaunay-Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel-Trenaunay-Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and family history. The clinical variability of the syndrome is emphasized and the importance of family history in differential diagnosis is stressed.

Possible second case of tricho-oculo-dermo-vertebral (Alves) syndrome.

We report on a 10-year-old girl with trichodysplasia, onychodysplasia, hyperpigmented ichthyoform lesions on her shins, mild enamel dysplasia, and hyperkeratosis involving the soles. This combination of ectodermal defects has only been described by Alves et al.

Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face.

We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been reported previously.

Trichodysplasia and amelogenesis imperfecta.

This paper describes a family in which members of two generations have an X-linked type of enamel dysplasia. All affected persons have symmetric pits in the cuticles of their hair shafts. The observation of these concurrent traits raises questions about the classification of amelogenesis imperfecta and the value of microscopic studies of the hair in the persons with purported isolated enamel dysplasias.

Winchester syndrome. A case report and literature review.

The mucopolysaccharidoses are a group of inherited lysosomal storage diseases that are caused by a deficiency of specific enzymes. The acid mucopolysaccharides are stored in tissue and excreted in large quantities in the urine. The storage of this material leads to effects on a wide variety of tissues and to remarkable changes in morphologic features. Winchester syndrome is a rare disorder in the group of mucopolysaccharidoses. This article is a report of a case with classic clinical, radiologic, and biochemical characteristics of the Winchester syndrome.

Oral complications associated with neonatal oral tracheal intubation: a critical review.

This paper summarizes and evaluates the oral complications associated with orotracheal intubation in neonates. The palatal defect resulting from orotracheal intubation is best described as palatal grooving, rather than clefting since no oral nasal communication has been demonstrated. Palatal grooving may be caused by the inhibition of the molding tongue forces on the lateral palatine shelves. The incidence of palatal grooving increases with duration of intubation and reportedly resolves following extubation. However, posterior cross-bites, high palatal vaults, and poor speech intelligibility have been reported in children who previously have been intubated. Impingement of an orotracheal tube on the alveolus rather than on the palate may cause alveolar grooving which can cause dilaceration of primary teeth. Bilateral linear enamel hypoplasia in premature neonates is caused by an interruption in amelogenesis from intrauterine disturbances. However, gross unilateral incisal enamel hypoplasia in children who have been intubated is probably due to traumatic intubation. Avoiding excessive pressure on the maxillary alveolus during intubation is suggested. An appliance is available which secures oral tubes and protects the palate and alveolus.

Problems in nomenclature of craniofacial disorders.

The diverse background of clinical geneticists may lead to problems of communication unless attention is paid to nomenclature. In this paper, consensus is sought on terms for normal and abnormal development, a system for labeling developmental defects of dentin is proposed, and terms for patterns of coexistent variations are defined. The major methods for naming coexistent variations are reviewed, with attention to the disadvantages of each. An informal study on recognition of patterns of variation based on the naming system used is also presented.

Identification and control of paratuberculosis in a large goat herd.

Mycobacterium paratuberculosis infection was detected in 2 goats in 1974 and in 5 goats in 1975; 5 of which were from a single herd. The magnitude of the subsequent epizootic in the goat herd was not recognized until 1977, when results of bacteriologic culture of fecal and tissue specimens, antibody determinations (agar-gel immuno-diffusion test), and histopathologic studies became available. By 1984, paratuberculosis had been diagnosed in 124 goats. Nearly all the goats were being used in antiserum production and had been given Freund complete adjuvant and human antigens. From 1974 to 1986, herd size varied from 100 to 300. The yearly incidence of paratuberculosis decreased from 13.2% (27 of 204 goats) in 1977 to 0% in 108 goats in 1985. The prevalence was higher in does. In goats that arrived on the farm in 1975 and before, 49 of 121 (40.5%) does developed paratuberculosis vs 41 of 120 (34.2%) wethers. In goats arriving on the farm in 1976 and after, 25 of 274 (8.5%) does and 9 of 216 (4.1%) wethers developed paratuberculosis. The average incubation period was approximately 4 years from arrival on the farm in every year except 1978, regardless of whether the goat was born on the farm or was purchased elsewhere.(ABSTRACT TRUNCATED AT 250 WORDS)

"Otodental" dysplasia.

The case of a 3 11/12-year-old Chinese boy with the dental abnormalities of "otodental" dysplasia is reported. Hearing was normal. Dental anomalies consisted of delayed eruption of globe-shaped molars, bulbous deciduous canines, and double pulp chambers in the molars. Radiographs taken 4 years later showed taurodontic molars, supernumerary microdontic teeth, retarded formation of premolars, and probable aplasia of the mandibular second premolars.

Autosomal dominant inheritance of the DeMyer Sequence.

Holoprosencephaly (HPC) may be an isolated trait or may be associated with other craniofacial defects. As an isolated trait, HPC has been reported to be inherited as an autosomal recessive, while autosomal dominant inheritance has been reported for sequences or syndromes in which HPC occurs. This paper presents a family in which several people have variable combinations of craniofacial defects. The most severely affected relatives have HPC, while others have only mild facial dysmorphia and decreased bitemporal diameters. One relative has a single central incisor in the maxilla. The pattern of defects in this family is inherited as an autosomal dominant. Other families with the reported pattern of defects, including single central incisors as minimal manifestations, are cited. Because HPC is found only occasionally in the pattern of defects, the term DeMyer Sequence is proposed as a more appropriate designator than the more commonly used Holoprosencephaly Sequence.

A population study on the density of palmar sweat pores.

A study of density of sweat pores in 594 individuals indicated that the average number of pores per cm2 in the hypothenar area was 490.4 for white newborns, 513.6 for black newborns, 652.4 for white children, 629.2 for black children, 519.6 for white adult males, 533.6 for white adult females, 379.2 for black adult males, and 519.2 for black adult females. The present study failed to demonstrate that newborns have the greatest density of pores when compared with children and adults. However, it should be kept in mind that many of the palmar impressions were taken during the first or second day of life. Those impressions did not reproduce the sweat pores clearly. It appears from this study that an optimal time to take palmar impressions on newborns is after the sweat glands are mature and functioning. Figure 1 shows that this occurs 2 weeks after birth. No differences in the density of sweat pores was found between blacks and whites. No differences in the density of sweat pores between the sexes was found in any group except for adult blacks: males had fewer pores than females. A review of the density of sweat pores in subjects with hypohidrotic ectodermal dysplasia is also given.

Autosomal dominant ectodermal dysplasia.

A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts.

Fragile-X mental retardation syndrome transmitted through intellectually normal males: implications for genetic counseling.

The fragile-X mental retardation syndrome is the second most common identifiable cause of mental retardation in man. This condition violates many of the expectations for X-linked disorders, including the transmission of the syndrome through men who carry the gene but, for unknown reasons, do not express it. Two new cases of male transmission are presented along with four other cases heretofore unidentified in the literature, bringing the total number of confirmed or probable cases of transmission through normal men to 32. The various unorthodox characteristics of the syndrome are reviewed in light of their influence on genetic counseling. Recommendations for counseling families with fragile-X include evaluating all sons of carrier women psychometrically and cytogenetically, abandoning termination of pregnancies with male fetuses as a means of preventing the fragile-X syndrome, assuming that all mothers of sporadic cases are carriers, and karyotyping at-risk female members at an early age.

Efficacy of and patient preference for three counseling formats.

Three methods of conveying genetics-related information to parents with children who have isolated cleft lip and palate (CL/P) were evaluated for efficacy and patient preference. The methods were slide-tape, group counseling, and individual (or parental couple) counseling formats. Sixty-one subjects were assigned at random to one of the three formats and then quizzed about their pre- and postcounseling knowledge and attitudes on CL/P. Long-term retention of information was measured by administering a third quiz 6 months after the initial counseling session. Comparisons of the mean scores for the three formats within each questionnaire revealed no significant differences among them. Based on this study, the following conclusions were drawn: Genetic counseling significantly improves one's knowledge base about CL/P; no counseling method is detectably better or worse than the others in conveying genetic information to counselees; group or audiovisual counseling is accepted by counselees as well as or better than individual counseling; the audiovisual format presents the same information as a counselor in half the time; and genetic counseling for CL/P is an underprovided service by San Antonio's CL/P treatment teams.

Deletions of the long arm of chromosome 10.

Patients with a partial deletion of the long arm of chromosome 10 are rare. We report eight new cases involving various segments of 10q: one terminal deletion (10q26), four (8;10) translocations resulting in terminal deletions (10q26) and duplications (8q24.3), a de novo interstitial deletion (10q23), an interstitial deletion due to a (10;13) translocation (10q11.2----10q22.1), and a ring (10p15----10q26).

The use of COMFORTS in a genetics clinic.

COMFORTS adequately meets the criteria that led to the establishment of FOMERS: data on patients are cross-indexed by name, diagnosis, and pedigree number. However, because COMFORTS utilizes the memory and sorting capabilities of a computer, it is more easily used for large databases than is FOMERS. Alphabetizing records by name in a file; adding, deleting, or modifying diagnostic categories; and assigning and sequencing pedigree numbers are easy when the work is shared with a computer. The ease with which data can be entered, changed, or deleted was shown in the foregoing description of the program. Ease of use is only one aspect of COMFORTS; expanded facility for research is equally important. Of particular interest in this latter regard is the Cardinal Sign field of COMFORTS. COMFORTS also has features that facilitate scheduling and generation of demographic reports.