Presentation
Suspected congenital skeletal dysplasia with skeletal underdevelopment and bowed limbs.
Patient Data
X-rays performed over a 5-week period confirm the following features:
frontal bossing
macrocephaly
narrow bell-shaped chest and pulmonary hypoplasia
short horizontal ribs
small scupalae
rhizomelia
"telephone handle" bowing and metaphyseal flaring of the humeri and femora
thickened extremity soft tissues
hypoplastic iliac bones
small, squared iliac wings
platyspondyly
normal trunk length
There is possible partial or developing craniostenosis of the sagittal suture.
Case Discussion
Features suggestive of thanatophoric dysplasia. Based on the absence of a cloverleaf skull and significant skeletal underdevelopment with the extent of extremity bowing, a type I thanatophoric dysplasia is likely.
This is an example of one of the lethal skeletal dysplasias; in this instance, the baby passed away after 5 weeks.