Multiple benign circumferential skin creases on limbs


Pyriform aperture stenosis

Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.


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PMID (PMCID)
21995818
(4131925)
 FEMALE Infant
New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.
Basel-Vanagaite L, Sprecher E, Gat A, Merlob P, Albin-Kaplanski A, Konen O, Solomon BD, Muenke M, Grzeschik KH, Sirota L.
Pediatr Dermatol. 2012;29(1):89-95.
Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation.