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Cryptophthalmos ‐ syndactyly syndrome without cryptophthalmos

R. Koenig, J. Spranger · Clinical Genetics · 1986

Based on a personal observation and a review of the literature five cases with the so‐called cryptophthalmos‐syndactyly syndrome but without cryptophthalmos are presented. It appears that eye lesions are non‐obligatory components of a pleomorphic condition which may be overlooked in the absence of the name‐giving anomaly. The diagnosis of the cryptophthalmos‐syndactyly syndrome must be considered in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos.

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