[source]
pmid = PMID:30012084
title = The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
[diagnosis]
disease_id = OMIM:615220
disease_label = Osteogenesis imperfecta, type XV
[text]
A 14-year-old Thai girl was born via cesarean section due to premature rupture of the membrane with a birth weight of 2500 g.
She is the first child of a consanguineous (second-degree relatives) couple. Both parents are healthy and have never had fractures.
During her first year of life, she had delayed motor development and growth failure. At one year of age, she could not sit by
herself and weighed 7.5 kg (< 3rd centile). She presented to our hospital at 14 months of age with fractures of both femora
without a history of significant trauma. She was found to have ptosis of both eyes with normal teeth but no blue sclerae.
She was small for her age. Her weight was 7.8 kg (3rd centile) and her length was 68 cm (< 3rd centile). Skeletal survey
showed diffuse osteopenia, multiple healed fractures of the right humoral shaft, both tibiae and fibulae. Spine radiograph showed
flattening and indentation of vertebral bodies (Fig. 1).
Radiological features of the proband. Imaging of the thoracic and lumbar spines at 14 months of age, (a) the
antero-posterior and (b) lateral views revealed depressed multiple vertebrae.
Figures c-f showed imaging at 14 years of age of upper extremities (c-d) and lower extremities (e-f) revealing deformities
of humeri, left ulna and radius, right tibia and fibula, left tibia and fibula, respectively