We report on two cases with the same dragnosis of a rare, although well knownbone
disease in which the presentation and course is different and the diagnosis is often delayed
due toa relatively late onset of the clue signs.
First case is a boy prenatally diagnosed with multicystic kidney disease, he was born
prematurely with some minor facial dysmorphism, bicuspid aortic valve and a hoarse voice.
Subsequently a vascular malformation in the cervicodorsal spine and Chiari 1 malformation
was observed. Skeletal symptoms were observed trom the age of 1 year on.
The second case is a girl who was referred at the age of two because of hearing loss,
recurrent respiratory infections and a coarse face. She had a congenital hip luxation at birth.
Growth evolution was retarded in the subsequent years and facial dysmorphism became
more prominent. At the age of 7 years the diagnosis was made on the base of dysmorphism
and further investigations showed typical skeletal changes and other features.
With this two cases we like to illustrate the importance of recognizing the facial
dysmorphism and being aware of some less frequent, but important signs of the syndrome
of the disease in order to make a earlier diagnosis or in the era reverse dysmorphology to
check for the right subpanel of genes.
Original languageEnglish
Title of host publicationTwo cases of a "skeletal" syndrome: the illustration of a variable, broad clinical spectrum
Pages42-42
Number of pages1
Publication statusPublished - 2017

ID: 37116832