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  • C syndrome  (1)
  • Cardio-facio-cutaneous syndrome  (1)
  • Fragile X syndrome (Martin-Bell syndrome)  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Opitz trigonocephaly syndrome: Report of two cases (1984)
    Springer
    European journal of pediatrics 141 (1984), S. 183-185 
    Details
    ISSN: 1432-1076
    Keywords: C syndrome ; Malformation, multiple congenital ; Trigonocephaly syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443223
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Developmental and behavioural disturbances in 13 boys with fragile X syndrome (1985)
    Springer
    European journal of pediatrics 143 (1985), S. 269-275 
    Details
    ISSN: 1432-1076
    Keywords: Behavioural and developmental disturbances ; Prepubertal boys ; Fragile X syndrome (Martin-Bell syndrome)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Developmental and behavioural aspects were studied in 13 boys aged 2.6–12.5 years from three families with the fragile X syndrome. The following observations were made. (1) Moderate to severe retardation was present in all boys; non-verbal IQs ranged between 25 and 67 (mean 46±14); IQ and age were negatively correlated (P〈0.01). (2) Language development was grossly delayed in all boys: most had severe articulation problems. (3) Imitative and symbolic play (e.g. doll play) were strikingly retarded as compared to abstract play (e.g. block design). (4) Autistic features such as no use of eye contact, stereotyped movements and echolalia were found in 9/13 boys; the same number showed aggressive behaviour. (5) General activity was reduced during the 1st year of life; most boys became very hyperactive during the second year; and short attention span and increased distractability were observed in all. (6) Motor development was mildly delayed; all boys were clumsy and moderately hypotonic. The fragile X syndrome ought to be considered in retarded boys with a dissociated developmental pattern, in particular a striking delay in language and play development, and autistic features.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442299
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    The cardio-facio-cutaneous syndrome: report of a patient and review of the literature (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 486-488 
    Details
    ISSN: 1432-1076
    Keywords: Cardio-facio-cutaneous syndrome ; Multiple congenital anomalies/mental retardation syndrome ; Congenital heart disease ; Ectodermal abnormalities ; Sporadic occurrence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 3-year-old girl with the cardiofacio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The actiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958429
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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