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Updated: Apr 20, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence
Oscar F Chacon-Camacho1, Vanessa Villegas-Ruiz, Beatriz Buentello-Volante
1Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Abstract:
We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.
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