DK-phocomelia syndrome in a child with a long follow-up

✍ Scribed by Urioste, Miguel ;Paisán, Luis ;Martínez-Frías, María Luisa

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 484 KB
• Volume: 52
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320520304

✦ Synopsis

Abstract

We report on an 8‐year‐old boy with a pattern of multiple congenital anomalies that strongly suggest DK‐phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow‐up. This is the first case with on 8‐year follow‐up report of DK‐phocomelia syndrome. © 1994 Wiley‐Liss, Inc.