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  • 1
    Electronic Resource
    Electronic Resource
    Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 1-18 
    Details
    ISSN: 1432-1076
    Keywords: Mental retardation ; Megalocornea ; Iris hypoplasia ; Hypotonic cerebral palsy ; Seizures ; Genetic syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A previously apparently undescribed “syndrome” is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443795
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “Craniofacial dyssynostosis” (1976)
    Springer
    European journal of pediatrics 123 (1976), S. 15-28 
    Details
    ISSN: 1432-1076
    Keywords: Craniosynostosis ; Craniofacial dysostosis ; Mental retardation ; Agenesis of corpus callosum ; Hydrocephalus ; Cranlofacial dyssynostosis ; Autosomal recessive inheritance ; Spanish populations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report clinical findings in 2 sisters and 5 sporadic cases with a “new” type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the oorpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendants. The condition has been designated craniofacial dyssynostosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00497676
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes of man XXXVIII: the BD syndrome (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 191-198 
    Details
    ISSN: 1432-1076
    Keywords: Mental retardation ; Syndrome ; Multiple congenital anomalies ; Cleft mandible ; Athetoid cerebral palsy ; Growth failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with a virtually identical physical examination syndrome are reported. Both had severe microbrachycephaly, profound mental retardation and athetoid cerebral palsy. The anomalies include prominence of forehead, hypoplastic midface, mandibular prognathism, apparent midline “cleft” of mandible with absence of lower central incisors, ear and eye anomalies, growth failure, and various similar secondary anomalies due to hypotonia, cerebral palsy and immobilisation. The patients probably represent a “new” MCA/MR syndrome, the etiology of which is still unknown. A genetic cause, i.e., a gene mutation with pleiotropic effects, is suggested. This may involve an autosomal recessive trait, an autosomal dominant new mutation, or an X-linked dominant-hemizygous lethal trait.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439008
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  • 4
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes in man XXXX: Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father) (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 231-242 
    Details
    ISSN: 1432-1076
    Keywords: Multiple congenital anomalies ; Mental retardation ; McDonough syndrome ; Gonosomal aneuploidy ; Variant familial developmental pattern
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The McDonough syndrome is a “new” MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47-67) and had congenital heart defect, sternal deformity, kyphosis and craniofacial anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The Klinefelter syndrome in one affected boy and a 46, XY/47,XXY chromosome constitution in the father was a coincidental finding.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440262
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    Paper (German National Licenses)
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