What question did this study set out to answer?

To describe a case of cranio-lenticulo-sutural dysplasia associated with the SEC23A p.Arg716Cys variant and its phenotypic presentation.

March 23, 2026Clinical Pediatric Endocrinology0 citationsOpen Access

Skeletal dysplasia and growth disorder with SEC23A p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia

HYHideaki YagasakiUniversity of Yamanashi Hospital HNHiromune NarusawaUniversity of Yamanashi DWDaisuke WatanabeUniversity of Yamanashi

Key Points

To describe a case of cranio-lenticulo-sutural dysplasia associated with the SEC23A p.Arg716Cys variant and its phenotypic presentation.
Case report of a heterozygous SEC23A variant.
Longitudinal follow-up assessment of skeletal growth.
Evaluation of pubertal progression in the patient.
Identified a new case differing from previous reports of AD-CLSD.
Notable delayed closure of the anterior fontanelle.
Observed broader phenotypic variability of SEC23A-related disorders.

Abstract

Highlightsl Here, we report a new case of heterozygous SEC23A p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia.l This case differs from previously reported AD-CLSD with respect to delayed closure of Yagasaki et al. page 2 the anterior fontanelle and lenticular phenotypes, presenting a broader phenotypic variability of SEC23A-related disorders.l Longitudinal follow-up enabled detailed assessment of skeletal growth and pubertal progression in patients with AD-CLSD.

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