| Popis: |
A female who was born after a gestation of 37 weeks without incident. A caesarean was performed due to cephalopelvic disproportion. She had no clavicles, dehiscence of the sagittal suture, large anterior fontanelle and occipital prominence. A chest x-ray, abdominal and brain ultrasound and karyotype, was requested, with changes only seen in the x-ray,, which showe clavicular agenesis and flared chest. Cleidocranial dysostosis was diagnosed a family study was started. There are ten affected members in five generations. The partial or total absence of clavicles, the late closure of cranial sutures and fontanelles, the diastasis of the pubic symphysis and the flared chest during the first days of life, are constant features. Four presented characteristic facies and three delayed onset of first teeth which required extractions. There is hearing loss in three of them. The three documented childbirths were caesarean due to cephalopelvic disproportion. Other alterations are failure to thrive, coxa vara and early osteoarthritis. |
