Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.

Laurance, B M

doi:10.1136/adc.42.222.126

Cited by 64 publications

(21 citation statements)

References 10 publications

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“…1) on our patient demonstrated absence of germ cells and normal Sertoli cells with their luminal apices resembling "wind-swept treetops" (Sniffen et al, 1951), a picture very similar to that found in adults with the Sertoli-cell-only (del Castillo) syndrome (Sniffen et al, 1951;del Castillo et al, 1947;Wong et al, 1973;Zarate et al, 1974). The absence of germ cells in our patient is unique when compared to previously reported testicular biopsies of children (Laurance, 1967;Zellweger and Schneider, 1968;Gabilan and Royer, 1968;Murken et al, 1966) and prepubertal males between the ages of 19 and 23 years with the Prader-Willi syndrome (Hamilton et al, 1972). These studies have shown the presence of definite spermatogonia.…”

Section: Discussionsupporting

confidence: 53%

Absence of spermatogonia in the Prader-Willi syndrome

et al. 1977

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Section: Discussionsupporting

confidence: 53%

Absence of spermatogonia in the Prader-Willi syndrome

et al. 1977

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“…"2, Laurance [1967], N = 9; 3, Dunn [19681, N = 9;4, Zellweger and Schneider 119681, N = 14;5, Hall and Smith 119721, N = 32;6, Dunn et al [1981], N = 23; 7, Mattei et al 119831, N = 17; 8, Bray et al [1983l, N = 20;8, Bray et al [19831, N = 21;9, Cassidy et al 119841, N = 12; 10. Fukushima et al [1984], N = 9 (excluding patientsfrom reference 11: Niikawa and Ishikiriyama 119851); 11, Niikawa andIshikiriyama 119851, N = 18;12, Takano et al [1986], N = 24; 13, Butler et al [19861, N = 39;14, Wenger et al [19871, N = 59;15, Greenswag [19871 [Ledbetter et al, 1981[Ledbetter et al, , 1982Wyandt et al, 1981;Mattei et al, 1983;Fukushima et al, 1984;Niikawa and Ishikiriyama, 1985;Fear et al, 1985;Takano et al, 1986;Butler et al, 1986;Labidi and Cassidy, 1986;Wenger et al, 1987;Wiesner et al, 19871.…”

Section: Clinical Stages and Cytogenetic Findingsmentioning

confidence: 99%

“…PWS, generally sporadic in occurrence, is characterized by infantile hypotonia (94%), early onset of childhood obesity (94%), mental deficiency (average I& of 65, range from 20 to 90; 97%), short stature (76%), small hands and feet (83%), hypogenitalismihypogonadism (95%), a characteristic face (e.g., narrow bifrontal diameter, almond-shaped eyes, and triangular mouth) and an interstitial deletion of chromosome 15 (qll-13) in about one-half of the patients [Laurance, 1967;Dunn, 1968;Zellweger and Schneider, 1968;Hall and Smith, 1972;Dunn et al, 1981;Ledbetter et al, 1982;Mattei et al, 1983;Bray et al, 1983;Fukushima et al, 1984;Niikawa and Ishikiriyama, 1985;Fear et al, 1985;Takano et al, 1986;Butler et al, 1986;Wenger et al, 1987;Greenswag, 19871. Figure 1 shows the chromosome 15 deletion recognized in about one-half of PWS patients.…”

Section: Introductionmentioning

confidence: 99%

Prader‐Willi syndrome: Current understanding of cause and diagnosis

1990

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Prader-Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one-half of the patients. The incidence is estimated to be about 1 in 25,000, and PWS is the most common syndromal cause of human obesity. DNA abnormalities, usually deletions or duplications of chromosome 15, have been identified in individuals with PWS with or without recognizable chromosome 15 deletions. Paternal origin of the chromosome 15 deletion by cytogenetic and DNA studies has been found in nearly all PWS individuals studied. No cytogenetic evidence for chromosome breakage has been identified, although an environmental cause (e.g., paternal hydrocarbon-exposed occupations) of the chromosome 15 abnormality has been proposed. PWS patients with the chromosome 15 deletion are more prone to hypopigmentation compared with PWS individuals with normal chromosomes, but no other clinical differences are consistently identified between those with and without the chromosome deletion. Anthropometric, dermatoglyphic, and other clinical findings indicate homogeneity of PWS patients with the chromosome deletion and heterogeneity of the nondeletion patients. A review of our current understanding of the major clinical, cytogenetic, and DNA findings is presented, and clinical manifestations and cytogenetic abnormalities are summarized from the literature.

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“…A number of investigators (Forssman and Hagberg, 1964;Laurance, 1967) have emphasized the apparent heterogeneity in PLW syndrome and suggested the possibility of subgroups before much chromosome testing had been done on affected individuals. The recent results of Ledbetter et al (1981) and Butler and Palmer (1983) have confirmed the existence of at least two subgroups, one consisting of individuals with the chromosome 15q deletion and the other of individuals in whom no such deletion is detectable with current techniques.…”

Section: Syndrome Diagnosismentioning

confidence: 99%

Anthropometry and numerical taxonomy in clinical genetics: An example of applied biological anthropology

Ward¹,

Meaney²

1984

American J Phys Anthropol

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Biological anthropologists can contribute a unique perspective as well as technical expertise to the diagnosis and classification of genetic disorders. Anthropometry has been used with increasing frequency to characterize syndromes and to establish ranges of variation within syndromes. The specific anthropometric-radiologic technique of metacarpophalangeal pattern profile analysis has proven useful in discriminating individuals with the Prader-Labhart-Willi (PLW) syndrome from unaffected persons. Analysis of these data also indicate a negative correlation between age and Z-score transformations of individual hand bone lengths. These findings sound a cautionary note to clinical investigators who would use the Z-score transformation to standardize for age and sex. Problems encountered in the classification of genetic syndromes afford many parallels with those faced by anthropologists in the classification of living and fossil populations. The reliance on "key" traits and the necessity of focusing on pedigree analysis results in a deemphasis of the total range of variation and typological thinking. Application of numerical taxonomic techniques to the classification of the heterogeneous connective tissue disease osteogenesis imperfecta (OI) illustrates the heuristic value of this technique and points out the need to consider phenotypic overlap when defining typologies. Clinical genetics affords just one example of an area in medicine where the unique training and generalist perspective of the biological anthropologist is in demand. The decline in the availability of positions in the traditional academic habitat for biological anthropologists makes it imperative that graduate students be aware of alternatives and that they obtain training in the practical skills which such alternatives will demand.

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Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.

Cited by 64 publications

References 10 publications

Absence of spermatogonia in the Prader-Willi syndrome

Absence of spermatogonia in the Prader-Willi syndrome

Prader‐Willi syndrome: Current understanding of cause and diagnosis

Anthropometry and numerical taxonomy in clinical genetics: An example of applied biological anthropology

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