title: Variant of Coffin-Siris syndrome or previously undescribed syndrome?
abstract: We describe a 23-year-old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a "coarse" face with large mouth and large tongue, and bushy eyebrows. Follow-up from birth to adulthood showed that developmental delay and hypoplasia of nails and distal phalanges are permanent signs. Sparse scalp hair, hypotonia, and feeding difficulties were present in early infancy. Later, growth retardation, hirsutism, and a "coarse" face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis includes a number of conditions, particularly Coffin-Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, this woman might represent a variant of Coffin-Siris syndrome or a new entity.
authors.affiliation: Institute of Human Genetics, University of Erlangen-Nürnberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Braun-Quentin
authors.forename: L
authors.initials: L
authors.lastname: Kapferer
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009260:Nail Diseases / Q000235:genetics; D013577:Syndrome