Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion

• Main Authors: Piranit N. Kantaputra, Chanin Limwongse, Chintana Tochareontanaphol, Apiwat Mutirangura, Umnat Mevatee, Verayuth Praphanphoj
• Format: Journal
• Published: 2018
• Subjects: Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33845236580&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/61800
• Institution: Chiang Mai University

We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails...