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Associated Syndromes |
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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.
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Please note this information has
not been provided by a medical professional, and should
not be used in the place of a medical opinion |
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| Surgery stories |
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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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