title: Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings.
abstract: Teebi and Shaltout [1989: Am J Med Genet 33: 58-60] described a new syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in children born to a consanguineous couple. We report on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses, and include autopsy findings. As additional findings 2 of our cases had unilateral microphthalmia and kidney anomalies. Our observation confirms that this pattern of anomalies is a distinct syndrome with autosomal recessive inheritance; we suggest the synonym Teebi-Shaltout syndrome.
authors.affiliation: Klinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität zu Lübeck, Germany.
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
authors.forename: H
authors.initials: H
authors.lastname: Rehder
authors.forename: W
authors.initials: W
authors.lastname: Höhn
authors.forename: F
authors.initials: F
authors.lastname: Oberheuser
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D009626:Terminology as Topic