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A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Clinical dysmorphology - 1 Apr 2021

Peleg Amir, Kurolap Alina, Sagi-Dain Lena, Larom-Khan G, Adir V, Mory Adi, Paperna Tamar, Shuldiner A R, Gonzaga-Jauregui C, Adir Noam, Baris Feldman Hagit, Wollstein R

Abstract excerpt

Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have...

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PMID: 32925198
DOI: 10.1097/MCD.0000000000000342

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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