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Craniofacial dysostosis

Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects. more...

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Overview

This syndrome is named after Octave Crouzon, a French physician who first described this disorder. She noted the affected patients were a mother and her daughter implying a genetic basis. First called Craniofacial Dysostosis, the disorder was characterized by a number of clinical features, which to this date has no known single, initiating defect to account for all of its characteristics.

Breaking down the name, "craniofacial" refers to the skull and face, and "dysostosis" refers to synostosis (a union between adjacent bones or parts of a single bone).

Now known as Crouzon Syndrome, the disease can be described by the rudimentary meanings of its former name. What occurs in the disease is that an infant's skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures lead to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the metopic suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures), oxycephaly (fusion of most sutures).

Causes

As stated previously, there is evidence for a genetic basis to this disorder, but there is also no known series of events leading to all the manifestations present. Instead, it is more accurate to view the symptoms arising independently from one another.

As in many syndromes, aberrations in chromosomes seem to be responsible in some cases, and in particular there is support that this disorder may propagate in an Autosomal Dominant mode. Evidence shown is that males and females are affected equally and affected offspring tend to have an affected parent. Furthermore, some researchers point to the long arm of chromosome 10 as a possible location for a genetic abnormality.

On the other hand, 20-40% of people with this disorder have no family history of this disorder, meaning that there is little likelihood of a familial inheritance in those cases. Thus, it is believed that a cause may be a fresh mutation, or, alternatively, an environmental disruption of the developing embryo which results in the same physical characteristics as the genetically-derived disorder. In other words, though genetic anomalies may be leading to a disruption of embryogenesis, facts suggest an important role of environmental factors.

Symptoms

As a result of the changes to the developing embryo, the symptoms are very pronounced features, especially in the facial areas. Low-set ears is a typical characteristic, as in all of the disorders which are called branchial arch syndromes. The reason for this abnormality is that ears in fetal life are much lower than those on an adult. During normal development, the ears "travel" upward on the head but, in these cases, do not follow this normal pattern of development since these syndromes have the greatest effects on the head.

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A father and son with a nonsevere form of Crouzon's syndrome
From Ear, Nose & Throat Journal, 5/1/00 by Bulent Mamikoglu

Bu[ddot{u}]lent Mamikoglu

Ayseg[ddot{u}]l Mamikoglu

Abstract

Crouzon's syndrome is a hereditary autosomal-dominant disorder. In its classic form, patients experience a premature closure of the cranial sutures, which leads to brachycephaly, proptosis, a small maxilla, and anomalies of the external and middle ear. In this report, we describe the case of a father and son who both had a nonsevere form of this disorder. The two men did not have brachycephaly or proptosis, but they did have ptosis and a mixed-type hearing loss.

Introduction

Crouzon's syndrome is a hereditary autosomal-dominant form of the craniofacial dysostosis disorders. Approximately one-third of all cases of craniofacial dysostosis occur in patients who do not have a familial predisposition to it. Crouzon's syndrome is characterized by premature craniosynostosis, brachycephaly, shallow orbits, and a hypoplastic maxilla. No single skull shape is diagnostic of craniofacial dysostosis, because the eventual shape of the head depends on the sequence in which the skull sutures fused. [1] For example, the bilateral fusion of coronal and lambdoid sutures results in turricephaly (tower skull) and markedly increases intracranial pressure and restricts brain growth. [2]

This article describes two cases of nonsevere craniofacial dysostosis in a father and son, which were characterized by mesocephaly and ptosis.

Case report

A 19-year-old man was admitted to our otolaryngology outpatient department for an evaluation of hearing loss. He had an atypical facial appearance, with a short nose, ptosis, and mesocephaly (figure 1). The auricle was slightly large, but the eardrum was barely visible because of stenosis of the external ear canal. The external canal appeared to be compressed from the anterior to the posterior.

A bilateral Rinne's s test was negative, and a Weber's test did not lateralize. A pure-tone audiologic test revealed an average bilateral mixed-type 45-dB hearing loss. His sagittal suture was palpable, but the coronal suture was not. The man was otherwise healthy and had a normal intellect. His mother and father were not blood relatives.

We asked the patient's father to come in for an examination. The father suffered from extreme ptosis and a mixed-type hearing loss. His auricle was macrotic, and his external ear canal was extremely stenotic, which nearly blocked the view of the eardrum. He also had a short nose with anteverted nares, a palpable sagittal suture, and a dolichocephalic skull shape (figure 2).

Discussion

According to Wullstein and Wullstein, the growth of the skull takes place in three phases. [3] During the first phase, from birth to the second year of life, synchondrosis is responsible for skull growth. The hyaline cartilage of the temporomandibular joint is responsible for the second phase of growth, which occurs between the ages of 2 and 7 years. In the third phase, from age 7 to adulthood, growth takes place primarily in the central part of the face. The premature ossification of a synchondrodial joint at the skull base will change the shape of the skull and will inhibit growth in the central part of the face and the temporal bone.

Patients with Crouzon's syndrome usually have a normal intellect. In its most severe form, the syndrome is characterized by turricephaly, an increase in intracranial pressure, and mental retardation. Crouzon's syndrome is associated with chronic otitis media and anomalies of the middle ear, including the absence of the tympanic membrane, ankylosis of the malleus, deformity of the stapes with narrowing of the middle ear space, and underdevelopment of the periosteal portions of the labyrinth. Corrective surgery is extensive.

From the Validebag Teachers Hospital, Kosuyolu, Istanbul, Turkey (Dr. B. Mamikoglu), and the Haydarpasa Central Hospital, Haydarpasa, Istanbul (Dr. A. Mamikoglu).

Reprint requests: B[ddot{u}]lent Mamikoglu MD, Nuhkuyusu Cad No: 18\6, [ddot{U}]sk[ddot{u}]dar 81150, Istanbul, Turkey. Phone: 90-312-235-0220; fax: 90-312-441-4674; e-mail: bulentmamikoglu@hotmail.com

References

(1.) Bertelson TI. The premature synostosis of the cranial sutures. Acta Oplithalmol Suppl 1958;51:1-6.

(2.) Marentette L.J. Craniofacial surgery for congenital and acquired deformities. In: Cummings CW, Krause CJ, eds. Otolaryngology-Head and Neck Surgery. Vol. 1, 2nd ed. St. Louis: Mosby-Year Book, 1993:347-52.

(3.) Wullstein HL, Wullstein SR. Tympanoplasty: Osteoplastic Epitympanotomy. Stuttgart: George Thieme Verlag, 1990.

COPYRIGHT 2000 Medquest Communications, Inc.
COPYRIGHT 2000 Gale Group

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