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Article

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Jun 2026

Du Caiqi, Yu Tingting, Liu Sheng, Fu Hao, Yang Aoyu, Zhang Haotian, Liang Yan, Luo Xiaoping

Abstract excerpt

OBJECTIVES: Oliver-McFarlane syndrome (OMS) is an extremely rare autosomal recessive disorder primarily characterized by the triad of trichomegaly, congenital hypopituitarism, and chorioretinal degeneration. This study aims to report the clinical and genetic characteristics of the first identified Chinese sibling pair with OMS and to expand the known phenotypic spectrum by documenting a novel clinical feature....

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Identifiers

PMID: 41846525
DOI: 10.1515/jpem-2025-0731

Genes

PNPLA6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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