A disorder that manifests with dwarfism/short stature, microcephaly, cranial asymmetry, craniosynostosis, and retinitis pigmentosa. Long list of multiple dysmorphies include small face, short nose, high-arched palate, micrognathia, malformed ear auricles, short fifth fingers, and simian creases. Present from birth. Etiology unestablished. Inheritance is X-linked or autosomal recessive, the latter considered most probable.
- S. Armendares, F. Antillon, V. del Castillo, M. Jimenez:
A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa, and multiple congenital malformations.
Journal of Pediatrics, St. Louis, 1974, 85: 872-873.
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