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  • Asymmetric malformations  (1)
  • Autosomal dominant inheritance  (1)
  • 1
    ISSN: 1432-1076
    Keywords: Focal dermal hypoplasia ; Goltz-Gorlin Syndrome ; Diaphragmatic hernia ; Asymmetric malformations ; Dominant X-linked inheritance with lethality in male fetuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1986), S. 579-582 
    ISSN: 1432-1076
    Keywords: Lacrimo-auriculo-dento-digital syndrome ; LADD syndrome ; Hearing loss ; Salivary gland anomalies ; Autosomal dominant inheritance ; Pleiotropy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.
    Type of Medium: Electronic Resource
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