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Sonographic diagnosis of cloverleaf skull and thanatophoric dysplasia in the second trimester

✍ Scribed by Carl P. Weiner; Roger A. Williamson; Stephen M. Bonsib

Publisher: John Wiley and Sons
Year: 1986
Tongue: English
Weight: 256 KB
Volume: 14
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.1870140612

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✦ Synopsis

An infant with thanatophoric dysplasia occurs in approximately 1:6,400 deliveries.' This lethal, sporadically occurring condition is readily diagnosable prenatally with ultrasound.2 The risk of recurrence is negligible since there are no documented cases involving sibs (Judith G. Hall, MD, personal communication). However, should thanatophoric dysplasia be associated with a "cloverleaf'' skull (Kleeblattschadel), the inheritance pattern is presumed autosomal recessive in some families with a recurrence risk of 1/4. 3 We report the second-trimester diagnosis of cloverleaf skull with thanatophoric dysplasia confirmed following pregnancy termination. Classic features of the disorder were documented sonographically.

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