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Associated Syndromes

 
Crouzon Sydrome:
This syndrome was originally described in 1912 by a French neurosurgeon. He described four essential characteristics: exorbitism, retromaxillism, inframaxillism and parodoxic retrogenia.

The incidence of this syndrome appears to be approximately one in 25,000 in the general population. It is inherited as an autosomal dominant pattern with variable expression. However, approximately 25% of reported cases have no family history and represent a new mutation.

For those interested in learning more about the genetics of Crouzon syndrome, meeting with a geneticist can provide the opportunity for an interactive discussion. The Donald Gordon Medical Centre in Johannesburg has registered Geneticists.

CROUZONS FAQ’S

Apert Syndrome
Crouzon Syndrome and Apert Syndrome are remarkably similar. Both involve cranial vault fusion (usually of the same sutures, nonetheless) and midface hypoplasia (leading to vertically compressed nasal passages which, because they occur in basically the same fashion in both conditions, are referred to as "Croupert").

There are, however, some qualifying differences between the two conditions. Apert Syndrome is more likely to involve non-craniofacial deformations (digital fusion is extremely common); further, while most Crouzon cases are hereditary, most Apert cases are not.

Pfeiffer Syndrome
Pfeiffer Syndrome involves premature cranial vault synostosis of both coronal sutures, whereas in Crouzon Syndrome other sutures may be the culprit. Like Crouzon Syndrome, however, Pfeiffer Syndrome causes midface hypoplasia. Pfeiffer Syndrome is also identified by unusually wide thumbs and fusion of the soft and/or connective tissue in the hands.

Treacher Collins Syndrome, Nager Variant, Miller Syndrome
Treacher-Collins Syndrome (also known as Franceschetti-Klein Syndrome or mandibulofacial dysostosis) was first noted in 1846, although clear diagnostic criteria were not established until 1949. It is marked by maxillary and mandibular hypoplasia, outer ear malformations, and various eyelid malformations.

Saethre-Chotzen
Like Crouzon Syndrome, Saethre-Chotzen involves premature cranial vault fusion. Whereas the premature synostosis causing Crouzon's maxillary hypoplasia is central to the face, however, Saethre-Chotzen's facial anomalies tend to be more localized and vary greatly from individual to individual. Rather than exophthalmos, Saethre-Chotzen patients tend to have "drooping" upper eyelids. Saethre-Chotzen is also marked by non-facial conditions such as fusion of skin tissue, short digits, and various skeletal malformations.

Carpenter Syndrome
While Carpenter (Carpenter's) Syndrome was technically discovered in 1901, it was not widely diagnosed until 1966. It involves premature cranial vault synostosis, leading generally to severe acrocephaly (resulting very often in mental retardation). Varying eyelid and digital anomalies are also common.

Waardenburg Syndrome
Waardenburg Syndrome involves a cleft palate, displacement of the eyelids, partial albinism, a broad septum, deafness, and various limb defects. Premature cranial vault synostosis is not, however, a common effect of the condition.
 
 
Surgery stories
    

Cameron Rondi
Cameron Mark Rondi was born on the 10th of March at Olivedale Hospital. When he was born he was diagnosed with Craniosynosis, it was picked up at birth as he was born with facial distortion ...

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Blake Campbell
Blakes surgery day was 4 April 2006...

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Azia-lynn
(not so) little Azia-lynn is born 1 week early (on her original due date!) 8lb 15oz and 21 inches...

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Tiaan Heyns
Tiaan was diagnosed with Sagittal Synostosis at six weeks of age.

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Chris-Lee - Our Miracle Child
In January 2007 after several tests and treatment – I was told that I will not be able to have children. 

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Claire Badden

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