DK-phocomelia syndrome in a child with a long follow-up.
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.
Urioste
M
M
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Paisán
L
L
Martínez-Frías
M L
ML
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002648:Child; D003456:Cryptorchidism / Q000150:complications; D004480:Ectromelia / Q000150:complications / Q000473:pathology*; D004677:Encephalocele / Q000150:complications; D006801:Humans; D008297:Male; D010413:Penis / Q000002:abnormalities; D012600:Scoliosis / Q000150:complications; D013577:Syndrome; D013997:Time Factors