ISSN:
1432-1076
Keywords:
Kleeblattschädel
;
Developmental field defect
;
Pfeiffer syndrome
;
Dominant inheritance
;
Hydrocephalus
;
Bicuspid aortic valve
;
Multiple minor visceral anomalies
;
Apparent thanatophoric dwarfism
;
Carpenter syndrome
;
Apert syndrome
;
Crouzon syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00443563
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