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We report on a 42 year old woman with the smallest reported paracentric inversion of chromosome 18, with the karyotype 46,XX,inv(18)(q22.1q23). The patient shows some of the features often seen in 18q- syndrome patients including short stature, developmental delays, mental retardation, midface hypoplasia, upslanting palpebral fissures, sparse hair, atretic ear canals, mild conductive hearing loss, and aggressiveness. Although cytogenetically it appears that no chromosomal material is lost, FISH studies using an 18q telomeric probe showed that chromosomal material comprising part of band 18q23 is lost. Further molecular studies showed the MBP gene, which maps to 18q23, was missing. We suggest that all chromosome inversions involving telomeric regions be evaluated by telomere FISH probes for deletion.

We report the case of a 5-year-old Caucasian female with an undiagnosed spondyloepimetaphyseal dysplasia, mild facial dysmorphism, sparse hair, mild developmental delay and a positive sweat chloride test in the absence of cystic fibrosis.

We report a 16-year-old female patient with an undiagnosed syndrome, of mental retradation, sparse hair, a prominent lower lip, brachydactyly with cone-shaped epiphyses

Several years ago, while I was visiting China, an extremely elderly woman scuttled across my path at one of the tourist sites near Shanghai. Her sparse hair was white, she was wearing the already rarely seen black cotton pajamas, and her feet were amazingly tiny, smaller than any I had ever seen on an adult. Her little slippers were flat and black, and under white socks great humps of something protruded anteriorly and posteriorly above her shoes. I knew I had been lucky enough to see a vanishing anachronism, a Chinese woman with bound feet. I wished desperately that I could see what it was anatomically that bulged her socks fore and aft. Why did Chinese women bind their feet until the custom, prevalent among rich and poor, was prohibited by succeeding Chinese governments, but most forcibly those of the last 50 years? Until this book, little systematic study has

We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.

We describe a boy with short stature, mental retardation, microcephaly, micrognathia, sparse hair, hypoplastic fingers and thumbs, distal aphalangia of the toes, and a hypoplastic clavicle. The pattern of anomalies corresponds closely to that found in five other children by Yunis and Varon.

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. Five addition additional cases of the Dubowitz syndrome are reported, including 2 with documented vascular abnormalities.

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.

As a part of the Central European Study a long-term study of the pubertal development of 687 Hungarian girls was undertaken and the findings compared with those of a cross-sectional study of a group of girls from Munster. In addition to assessment of the breast and pubic hair according to Tanner's classification, the development of axillary hair was, for the first time, subdivided into five stages (A1 to A5). This pubertal feature was related to the characteristics already known and, because of the absence of literature, compared with the author's own data. Stage A1 is the infantile stage, in which there is no hair development. In Stage A2, isolated, long, barely visible hairs appear. Stage A3 is marked by the development of a narrow band of sparse hair. In Stage A4 the area covered by hair is larger, and the hair has become more dense. Stage A5 is the adult stage, with a longish, rectangular area covered by hair of a density and texture found in adults. The development of axillary hair began at a average age of 11.94 years, with a standard deviation of 0.93 years. The subsequent stage (A3) was reached at a mean age of 12.53 +/- 0.92 years. At age 12.99 +/- 0.87 years Stage A4 was well developed. The adult hair covering appeared at a mean age of 13.58 +/- 0.66 years. The mean duration of development of the axillary hair was 2.28 +/- 0.60 years. Axillary hair was generally the last pubertal characteristic of development. Only in 5.5% of the girls was axillary hair the first sign of puberty.

That the speech clinician can play an important role in the identification and referral of clients with certain syndromes is exemplified in this case report. Speech and structural deviations in a client seen in the Osseo, Minnesota, Public Schools prompted referral to the University of Minnesota School of Dentistry. Although the structural deviations were of minimal significance for speech production, the combination of physical findings led to the diagnosis of a rare syndrome of oligodontia, taurodontism, and facial features of ectodermal dysplasia. The dental and genetic significance of these findings are discussed.

IN the course of previous investigations, we have observed that when either normal or neoplastic tissues of mouse origin are injected into new-born albino CFN rats (Carworth–Wistar origin) occasional animals will develop a wasting disease characterized by roughened scaly skin, sparse hair growth, failure to gain weight normally, and sometimes actual loss of weight1,2. This condition usually appears during the first 7–14 days of life and many of the animals so afflicted succumb within a few days. Others survive this crisis and live for at least 35 days. Apart from the sparse hair and stunted growth, these survivors are apparently normal.

Routine face-lift incisions in the temporal hair line may be unsatisfactory because of one or all of the following reasons: (a) Production of an area of baldness immediately in front of the ear; (b) presence of wide unsightly scar in the temporal hairline; (c) loss of hair in the temporal area; and (d) disfigurement of the temporal hair and sideburn. In order to conceal the deformity, the patient is limited to certain hairstyles. The problem is exaggerated in patients with sparse hair or who undergo a secondary rhytidectomy. A solution is an incision at or in the edge of the hairline in the temporal hairline. The technique has been used in over 200 patients during the past 3 years with excellent results. Specific points including location of incision, caveats in technique, and pre- and postoperative results are discussed.

The different sensitivity of the male and the female liver is well established, but in addition there are more apparent differences in the male liver. One possible explanation for these differences might be the existence of genetic peculiarities among patients with alcoholic cirrhosis. In the early 20th century, Chvostek, in Vienna, was the first to draw attention to a constitutional element which he believed to be fundamental: absent body hair, absent or extremely sparse hair on the limbs, and pubic hair of the female type i.e. with a horizontal upper border1. He placed special emphasis on the fact that these anomalies were of genetic origin and were not a secondary phenomenon due to alcoholism or cirrhosis. The feminine pattern of hair distribution, the so-called ’Chvostek’s habitus’, is a frequently seen condition, but the statistical proof of its association with alcoholic cirrhosis in man is still missing.

A distinctive new hair condition, the loose anagen syndrome, features anagen hairs that are loosely anchored and easily pulled from the scalp. The children studied had sparse hair that did not grow long and that pulled easily from the scalp. The majority of patients were blond girls, aged 2 to 5 years, but both sexes and those with dark hair can be affected. The hair was not fragile, and easily pulled hairs were misshapen anagen hairs without external root sheaths. Histologic examination of the hair showed abnormal premature keratinization of Huxley's and Henle's layers of the inner root sheath in some samples. Length and density of hair gradually increased with age, but anagen hairs remained loosely anchored in adulthood. This report describes findings in 22 children and five adults with the loose anagen syndrome.

The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical fades with a pear-shaped nose, a long phillrum and slowgrowing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.

Publisher Summary This chapter discusses the production of selenium deficiency in the rat. Selenium is an essential nutrient for animals, and diets deficient in the element have been in use for a number of years. Most studies of selenium deficiency have been carried out in rats. An integral part of producing selenium deficiency for research purposes is an assessment of its severity. Feeding a selenium-deficient diet is the key for the production of selenium deficiency. Because animals can conserve their selenium stores when deprived of the element, it is customary to begin depletion in weanlings weighing about 50 g. Male rats are generally preferred because they have a higher selenium requirement than females. To produce very severe selenium deficiency, investigators have fed low-selenium diets to female rats from weaning and then to their off- spring. These “second generation” selenium-deficient rats grow very slowly, have sparse hair, and cannot reproduce. Another approach to producing very severe deficiency is to use an amino acid diet.

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

Todd et al. (1934) were the first to demonstrate that zinc was an essential component in the diet of mammals. Since then, it has been shown that animals which consume zinc-deficient diets eventually develop a variety of pathologies including anorexia, growth retardation, abnormal immune function, abnormal nitrogen metabolism, hypogeusia, impaired reproductive capacity, coarse and sparse hair growth, flaking seborrhoea of the skin, impaired connective tissue metabolism and behavioural defects.

An unusual association of uncommon facies including telangiectasia in a butterfly distribution, a similar skin lesion on extensor areas, sparse hair, and membranoproliferative glomerulonephritis is described in a 4 year old boy and his father. The mode of inheritance of these features seems to be autosomal dominant.

Anhidrotic ectodermal dysplasia is a rare disease characterized by deficient sweating, sparse hair growth, and deficient teeth. In a family with typical manifestations in three generations...

Summary Two cases of tricho-rhino-phalangeal syndrome are described. This syndrome is one of the well differentiated diseases in the subgroup of peripheral dysostoses. Our cases conform with the condition as reported by Klingmueller and Giedion. The features which help to identify this entity are (I) peculiar facies (2) sparse hair (3) hand and feet deformities (4) usually some shortening of stature. Two additional clinical findings are stressed–bat ears and mental retardation. The importance of radiographic differentiation from other diseases with peripheral ossification disturbances and peripheral dysostoses syndromes, and specifically Thiemann's disease, is stressed.

The size and shape of the female head and mouth-parts of Chrysops vittatus Wiedemann, Hybomitra lasiophthalma Macquart and Tabanus lineola Fabricius are illustrated and compared quantitatively. The functions of the mouthparts are discussed. It is suggested that the short, broad proboscis of tabanines, in contract to that of chrysopines, may restrict them to feeding on vertebrates with short or sparse hair and on flowers with shallow nectaries. (Author)

In 1869, Raulin1first showed that zinc was essential for the growth ofAspergillus niger. In 1926, its essentiality for higher forms of plant life was established.2Todd and coworkers3(1934) showed that zinc was necessary for the growth and well being of the rat. In 1955, Tucker and Salmon4reported that Zinc cures and prevents parakeratosis in swine. The salient features of zinc deficiency in rats include anorexia, growth retardation, coarse and sparse hair, lymphopenia, testicular atrophy, hyperkeratosis, and acanthosis and parakeratosis of the skin, esophagus, and forestomach. In 1958, O'Dell et al5showed that zinc was required for growth and various other functions in birds. Zinc deficiency has been noted to occur in mice,6and deficiency of zinc has been produced experimentally in calves,7lambs,8dogs,9and young Japanese quails.10 Zinc deficiency in man, however, was once believed