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Ear pits, posterior helical(PHEP)

MedGen UID:: 342119
•Concept ID:: C1851900
•: Finding

Synonyms:	EAR PITS, POSTERIOR HELICAL; PHEP; POSTERIOR HELICAL EAR PITS; Posterior helical pits

Monarch Initiative:	MONDO:0007502
OMIM®:	128710

Clinical features

From HPO

Posterior helix pit

MedGen UID:: 867181
•Concept ID:: C4021539
•: Finding

Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.

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Ear malformation
- Posterior helix pit

Recent clinical studies

Etiology

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome.

Barr CL, Best L, Weksberg R
Am J Med Genet 2001 Nov 22;104(2):120-6. doi: 10.1002/ajmg.1587. PMID: 11746041

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Coriell Institute for Medical Research

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