Catania acrofacial dysostosis was reported in 1993 as a “new” form of a most likely autosomal dominant inherited acrofacial dysostosis. It is characterized by mild intrauterine growth retardation and postnatal short stature, severe microcephaly with high forehead, malar hypoplasia, micrognathia, mandibulofacial dysostosis with high-arched palate, widow’s peak, and mild webbing of the neck. Mild preaxial, and especially more conspicuous postaxial upper limb involvement with short hands, single simian creases, and mild interdigital webbing seems common. Central nervous system anomalies can include mental delay, hypoplasia of the corpus callosum, predominantly frontal cortical brain atrophy, hypoplastic cerebellar vermis, enlarged, ☞Dandy-Walker-like cisterna magna, syringomyelia, thoracolumbar scoliosis with lumbar spina bifida occulta, and tethered cord. Hearing loss, hair anomalies, extensive cavities, genitourinary (mainly hypospadias, cryptorchidism, neurogenic bladder), and gastrointestinal (inguinal hernias) anomalies have also been reported. The overall phenotype of this form of acrofacial dysostosis is rather mild and difficult airway management and peripheral vascular access should be less likely to occur in these patients. The same anesthetic concerns and pharmacologic implications as described here for acrofacial dysostosis Weyers Type would apply, although cardiac defects have not been described in Catania Type patients.
R: Broadening the spectrum of Catania brachydactylous type of acrofacial dysostoses. Clin Dysmorphol
et al: Acrofacial dysostoses: review and report of a previously undescribed condition: The autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet
A: Postaxial acrofacial dysostosis: Report on two patients. Am J Med Genet
KR: Confirmation of the Catania brachydactylous type of acrofacial dysostosis: Report of a second family. Am J Med Genet