New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

Lina Basel-Vanagaite*, Eli Sprecher, Andrea Gat, Paul Merlob, Adi Albin-Kaplanski, Osnat Konen, Benjamin D. Solomon, Maximilian Muenke, Karl H. Grzeschik, Lea Sirota

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)89-95
Number of pages7
JournalPediatric Dermatology
Volume29
Issue number1
DOIs
StatePublished - Jan 2012

Funding

FundersFunder number
National Human Genome Research InstituteZIEHG200354

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