Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.
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.
Faravelli
F
F
Ambulatorio di Sindromologia, II Clinica Pediatrica-Università di Milano, Italia. F.Faravelli@galliera.it
Di Rocco
M
M
Stella
G
G
Selicorni
A
A
Camera
G
G
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*