Multiple benign circumferential skin creases on limbs


Psychomotor retardation



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.