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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 1 (1974), S. 0 
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Three of our own and 38 previously reported cases of cutis marmorata telangiectatica congenita (CMTC) are reviewed. Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Clinically, the lesions are manifested as telangiectasis, capillary hemangioma, cutis marmorata, venous hemangioma and varicose veins, depending on the type of vessels involved and the layer of skin affected. Secondary thrombosis with subsequent localized atrophy and ulceration occurs in a substantial number of cases. In at least 50% of cases there are associated findings. Hypoplasia or hyperplasia of „affected” or of „unaffected” organs is the most common association. Overwhelming sporadic occurrence, female reponderance, occasional minor manifestations in close relatives and considerable clinical variability suggest a multi-factorial etiology of CMTC.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 7 (1978), S. 215-219 
    ISSN: 1432-1998
    Keywords: Bone dysplasia ; Enchondromatosis ; Dyschondroplasia ; Ollier disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 190-212 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Auf der Grundlage der Erfahrungen des Kieler Knochendysplasie-Registers sowie auf Grund einer ausführlichen Literaturübersicht werden die klinischen und genetischen Daten von zwei Haupttypen der Chondrodysplasia punctata dargestellt und diskutiert. 1. Conradi-Hünermann-Typ: Hier finden sich vor allem epiphysäre, häufig asymmetrische Calcifizierungen und dysplastische Skeletveränderungen. In 17% finden sich Katarakte, in 28% Hautveränderungen. 2. Rhizomeler Typ: Schwere, symmetrische, proximale Verkürzung der Extremitäten sowie deutliche Veränderungen der Metaphysen in Kombination mit Katarakt in 72% und Hautveränderungen in 28% der Fälle. Dieses Zustandsbild führt in der Regel vor Ende des 1. Lebensjahres zum Tode. Es ist wahrscheinlich durch Homozygotie eines autosomalen Gens verursacht. Möglicherweise gibt es noch weitere Typen der Chondrodysplasia punctata. Die Chondrodysplasia punctata wurde mit dem cerebro-hepato-renalen Syndrom (Zellweger) sowie mit den multizentrischen epiphysalen Ossifikationen bei der multiplen epiphysären Dysplasie verwechselt. This work was completed during the tenure of a visiting professorship of J. S. at the Dept. of Pediatrics, Univ. of Wisconsin, Madison, Wisc.
    Notes: Summary Based on the experience of the Kiel registry of bone dysplasias and on an extensive review of the literature, the clinical and genealogic data of two major types of Chondrodysplasia punctata are presented and discussed. The Conradi-Hünermann type of C.p. with predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes was reported in combination with cataracts in 17% and with skin changes in 28% of cases. It has a relatively good prognosis and is possibly caused by a dominant mutation. Genetic heterogeneity and the influence of environmental factors cannot be excluded in this type. The rhizomelic type of C.p. with severe, symmetrical proximal shortening of the extremities, and marked metaphyseal changes was reported to be combined with cataracts in 72% of the cases and with skin changes in 28%. It seems to be a lethal condition leading to death usually before the end of the first year of life. It is probably caused by the homozygous state of an autosomal gene. Other types of Chondrodysplasia punctata possibly exist. Chondrodysplasia punctata has been confused particularly with Zellweger's cerebrohepato-renal syndrome and with multicentric epiphyseal ossification in multiple epiphyseal dysplasia.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schnid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter→q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. Theses cases show that there is a bias of ascertainment for patients who have the more striking malformation, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter→q11 and without additional duplication or deletion of another autosomal segment.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 386-390 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A severe, nonlethal short-limb bone dysplasia is described in two unrelated patients. The disorder is characterized by a peculiar facial appearance, rib anomalies and severe shortness and distortion of individual long bones, notably the humeri, tibiae, fibulae, metapodia and phalanges with marked irregularity and asymmetry of bone changes. The condition is differentiated from other bone dysplasias with extreme limb shortness, in particular Grebe chondrodysplasia.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 114 (1973), S. 313-321 
    ISSN: 1432-1076
    Keywords: Congenital hydronephrosis ; Autosomal dominant inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Sieben Publikationen über familiäre Hydronephrose infolge einer Ureterabgangsstenose wurden in der Weltliteratur gefunden. Über einen weiteren Fall — eine Mutter und zwei ihrer drei Söhne betreffend — wird hier berichtet. Es wird angenommen, daß die Stenose ihre Ursache in einer dominanten Genmutation hat. Ein-oder beidseitiges Betroffensein dürfte auf den Grad der Expressivität des Gens zurückzuführen sein. Es ist wahrscheinlicher, daß die Stenose durch eine intrinsischen Defekt als durch äußeren Druck von Bindegewebssträngen oder aberreirenden Gefäßen im Gebiet des Ureterabgangs verurscht wird.
    Notes: Abstract Seven publications on familial hydronephrosis apparently due to uretero-pelvic junction stricture have been collected from the literature. an eighth family with this defect is reported in this paper; it involves a mother and at least two of her sons. The following conclusions can be drawn from these cases: The defect is most probably due to a mutant dominant gene, bilateral or unilateral involvement representing variable expressivity of this gene. The uretero-pelvic junction stenosis in the familial cases is more probably due to an intrinsic defect at the junction than to an extrinsic defect such as fibrous bands or aberrant vessels.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Hanhart syndrome ; Möbius syndrome ; Poland syndrome ; Nosology ; Pathogenesis ; Formal genesis syndrome ; Single anomaly vs. syndrome ; Kettner anomaly ; Glossopalatine ankylosis syndrome ; Aglossia-adactylia syndrome ; Charlie M. syndrome ; Cleft palate-lateral synechae syndrome ; Cleft palate ; Micrognathia ; Microstomia ; Microglossia ; Oligodontia ; Ankyloglossia superior and inferior ; Syngnathia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes. These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Möbius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Möbius syndrome: we suggest this term to refer to those cases of “Möbius syndrome” which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the “Möbius syndrome,” and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Möbius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion. Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Möbius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather a “syndrome.” This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e. symbrachydactyly and ipsilateral pectoralis muscle hypoplasia, may occur in the Poland-Möbius syndrome as well as in other conditions.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 124 (1977), S. 167-171 
    ISSN: 1432-1076
    Keywords: Hemiasymmetry ; Hemihypotrophy ; de novo translocation (46,XX,t[13q;7p]) ; Mosaicism ; Balanced cell line ; Unbalanced cell line ; Borderline intelligence ; Minor anomalies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 10 year old girl with a mental age of 7–8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 124 (1977), S. 231-256 
    ISSN: 1432-1076
    Keywords: Severe mental retardation ; Etiology ; Family history ; Recurrence risk ; Autosomal recessive
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The family history of 40 patients with severe “pure” mental retardation (MR) was studied to determine the incidence of mental retardation and dull-normal intelligence among relatives, probable etiologies and an empriric recurrence risk. Significant findings include: (1) an increased sex ratio (69% males) of propositi, (2) a significant proportion of patients with clinical manifestations besides MR, (3) virtually no consanguinity among parents, (4) a “positive” family history for over 1/2 of the propositi—about 37% of all children in the sibships were affected; about 21% of the full sibs were affected, (5) a higher number of offspring produced by dull persons and a lower number of offspring from retarded persons compared to two normal persons, (6) a proportionately large number of affected children produced from matings involving one or two dull persons, (7) a tendency for dull persons to have additional dull children and mentally retarded parents to have further retarded children while normal parents with more than one affected child usually had further retarded children, (8) an incidence of affected parents of about 32%, and (9) an overall empiric recurrence risk of 14%. Several etiologies were discussed as possible causes of the condition(s) in this group: (unrecognized) environmental damage and/or maternal/fetal interaction; unrecognized chromosome abnormalities; the homozygous state of several different autosomal recessive genes; X-linked recessive mutations; autosomal dominant new mutations; and multifactorial inheritance. It was concluded that the group was etiologically heterogeneous and although none of the probable etiologies could be excluded, it seemed reasonable to assume that autosomal recessive inheritance plays an important role in the etiology of severe “pure” mental retardation.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 116 (1973), S. 1-12 
    ISSN: 1432-1076
    Keywords: Recessive inheritance ; Parental consanguinity ; Mild mental retardation/normal intelligence ; Intrauterine growth retardation/shortness of stature/normal height ; Catch-up growth ; Microcephaly ; Malformation syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reports observations on 6 new patients with the Dubowitz syndrome which was first defined by Grosse et al., in 1971 and which is a recessively inherited, pleiotropic malformation syndrome including variable degrees of intrauterine growth retardation and primordial shortness of stature, microcephaly, mental retardation, eczema, and a characteristic appearance, voice and combination of minor anomalies. Data in the present report show that eczema can be absent, and patients can be of normal height, and of normal intelligence in spite of a head circumference which has so far always fallen below the third percentile. So far 11 patients (8 females and 3 males) are known with the Dubowitz syndrome; in one family the parents were first cousins.
    Type of Medium: Electronic Resource
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