title: New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.
abstract: Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. 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. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings.
authors: Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. basel@post.tau.ac.il
authors: Lina
authors: L
authors: Basel-Vanagaite
authors: Eli
authors: E
authors: Sprecher
authors: Andrea
authors: A
authors: Gat
authors: Paul
authors: P
authors: Merlob
authors: Adi
authors: A
authors: Albin-Kaplanski
authors: Osnat
authors: O
authors: Konen
authors: Benjamin D
authors: BD
authors: Solomon
authors: Maximilian
authors: M
authors: Muenke
authors: Karl-H
authors: KH
authors: Grzeschik
authors: Lea
authors: L
authors: Sirota
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001706:Biopsy; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology*; D013577:Syndrome