Late Severe Crouzon Syndrome, What to do? When to Give Up?

Both Crouzon is grouped in syndromic craniosynostosis. Craniosynostosis

is defined as the pathologic premature clossure or fusion of one or more sutures in
the cranial vault that occuring intrauterine or shortly after birth, it is associated with
a deformity of the vault and cranial base. Craniosynostosis conditions are usually
divided into the nonsyndromic craniosynostosis which are isolated event and
generally not genetically determined, and the syndromic craniosinostosis which are
most often genetic in nature and occur in conjunction with other anomalies in well-
defined patterns.1, 2, 3
Incidence of craniosynostosis is approximately 0.6 per 1000 births while
syndromic craniosynostosis accounts for approximately 20% of cases. Over 150
reported syndromes are associated with craniosynostosis, with most involving
associated anomalies of the limbs, ears, and cardiovascular system, but the most
common are Apert’s syndrome and Crouzon’s syndrome.3, 4
The Crouzon syndrome (Acrocephalosyndactyly Type II) is an autosomal
dominant disorder characterized by premature fusion of the fibrous joints between
the cranial sutures and distinctive malformations of the skull and craniofacial region
which results facial abnomalities typically include midface hypoplasia with
protrusion of the lower jaw, shallow orbits, ocular proptosis, divergent strabismus
or exotropia, and ocular hypertelorism (Fig.1).1, 5 Some other features commonly
seen in these patients are visual disturbances related to an imbalance of the extra
ocular muscles, exposure conjunctivitis or keratitis result from exorbitism, and
hearing loss owing to recurrent ear infections. The mental capacity of Crouzon
syndrome patients is usually in the normal range. However, some mental delay has
been reported that may be related to increased intracranial pressure.6 The reported
frequency is 1 in 25,000 live births.1
Craniosynostosis should be recognized timely for optimal treatment.
Correction of craniosynostosis in childhood can cause relatively much blood loss.
Next to the surgical and anesthesiologic challenges, we should take into account
that syndromic patients may be associated with comorbidity, mostly with
compromised airway with or without OSAS. This is why optimal organizational
conditions should be in place, before, during, and after the intervention. It appears,
however, that craniosynostosis patients often are not referred at all or referred too
late.8

Kurang
1. pembahasan
a. Kapan operasi nya dilakukan, banyak alte case dibiarin aja,
kenapa?
2. Case report sesuai powerpoint dr. Putri dr. Magda
3. Discussion
a. Kepentingan kasus ini
b. Memgapa kita melakukan operasi
c. Bahas perkembangan setelah operasi
d. Bahas perkembangan pasien jika di operasi pada waktu yang
tepat
e. Bandingkan dengan kasus di luar negeri pada umur yang sama
dilakukan apa
f. Bandingkan dengan late case lain
REFERENCE
1. Bartlett, S. Craniosynostosis Syndromes. In: Charles, T. et al. Grabb and Smith’s
plastic surgery. 6th ed. Philadelphia: Lippincott Williams & Wilkins, a Wolters
Kluwer Business; 2007. p. 237-247.
2. Wall, Steven. Craniosynostosis. (s.l.): (s.n.). 1998.
3. Jeffrey, L. Heike, G. Perioperative Management of Pediatric Patients with
Craniosynostosis. Anesthesiology Clin 25 (2007) 465–481.
4. Shuper, A. et al. The Incidence of Craniosynostosis in the Newborn
Infant. Am
J Dis Child. 1985;139(1):85–6.
5. Bowling, E. and Burstein, F. Crouzon Syndrome. J Optometry 2006;77(5):217-
222.
6. Bertelson TI. The Premature Synostosis of the Cranial Sutures. Copenhagen:
Arch Ophthalmol. 1958;5(Suppl):47-66.
7. Blank, C. Apert’s Syndrome (A Type of Acrocephalosyndactyly) – Observations
on a British Series of Thirty-nine Cases. London. Ann. Hum. Genet., Lond.
1960;24(2): 151-162.
8. Mathijssen, I. Guideline for Care of Patients With the Diagnoses of
Craniosynostosis: Working Group on Craniosynostosis. J Craniofac Surg
2015;26(6): 1735–1807