title: Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.
abstract: In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.
authors: Ambulatorio di Sindromologia, II Clinica Pediatrica-Università di Milano, Italia. F.Faravelli@galliera.it
authors: F
authors: F
authors: Faravelli
authors: M
authors: M
authors: Di Rocco
authors: G
authors: G
authors: Stella
authors: A
authors: A
authors: Selicorni
authors: G
authors: G
authors: Camera
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005532:Foot Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities; D017689:Polydactyly / Q000175:diagnosis*; D013977:Tibia / Q000002:abnormalities*