Multiple benign circumferential skin creases on limbs


Camptodactyly

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.


合計: 1

                       


（表示件数）
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.