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EAR MALFORMATION

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List of OMIM search results Pierre Robin Syndrome

*128600 EAR MALFORMATION

Alternative titles; symbols

CUP EAR

table OF CONTENTS

 

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2 MEDLINE Citations

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TEXT

Potter (1937) described a bilateral congenital malformation of the pinna which is curled up like a cap or cup concealing the external auditory meatus when the subject is in lateral profile. Erich and Abu-Jamra (1965) observed transmission of the condition through 4 generations (in 17 cases in 8 sibships) and reviewed similar reports. Peterson and Schimke (1968) observed cup-shaped ears in members of 5 generations with at least 4 instances of male-to-male transmission. Their proband had Pierre Robin syndrome (261800). The embryology of the auricle and a large amount of clinical material on various anomalies of the auricle were presented by Rogers (1968).


REFERENCES

1. Erich, J. B.; Abu-Jamra, F. N. :
Congenital cup-shaped deformity of the ears transmitted through four generations. Mayo Clin. Proc. 40: 597-602, 1965.

 

2. Peterson, D. M.; Schimke, R. N. :
Hereditary cup-shaped ears and the Pierre Robin syndrome. J. Med. Genet. 5: 52-55, 1968.
PubMed ID : 5653870

 

3. Potter, E. L. :
A hereditary ear malformation transmitted through five generations. J. Hered. 28: 255-258, 1937.

 

4. Rogers, B. O. :
Microtic, lop, cup and protruding ears: four directly inheritable deformities. Plast. Reconst. Surg. 41: 208-231, 1968.
PubMed ID : 5644613

 

CLINICAL SYNOPSIS

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CREATION DATE

Victor A. McKusick : 6/4/1986

EDIT HISTORY

mimadm : 6/25/1994
warfield : 3/22/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

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Date Last Modified: 11/3/99
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