Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2010  |  Volume : 28  |  Issue : 4  |  Page : 322--325

Apert syndrome


Premalatha, VP Kannan, Madhu 
 Department of Pedodontics, GDC, Calicut, India

Correspondence Address:
Premalatha
Government Dental College, Medical College Campus, Calicut - 673 008
India

Abstract

Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.



How to cite this article:
Premalatha, Kannan V P, Madhu. Apert syndrome.J Indian Soc Pedod Prev Dent 2010;28:322-325


How to cite this URL:
Premalatha, Kannan V P, Madhu. Apert syndrome. J Indian Soc Pedod Prev Dent [serial online] 2010 [cited 2020 Jul 11 ];28:322-325
Available from: http://www.jisppd.com/text.asp?2010/28/4/322/76169


Full Text

 Introduction



Apert's syndrome, named after a French physician "Eugene Apert" who first described it in 1906, is a relatively uncommon cranio-facial anomaly. [1],[2] According to Cohen, [3] the incidence of Apert's syndrome is about 15 per 1,000,000 live births. Apert's syndrome has been rarely reported from India. [4] It is inherited in an autosomal dominant fashion with mutations of either Ser252Trp or Pro253Arg in fibroblast growth factor receptor 2(FGFR2) on chromosome 10q25.3-26. [5],[6],[7] But sporadic cases are also frequent. Sporadic transmission indicates that a family may have a child with Apert syndrome when no other members of family are affected. The recurrence risk of having another child with Apert syndrome for two unaffected parents is negligible. However, there is a higher mutation rate in males because the germ-cell divisions in males are greater than those in females. Hence, the mutation rate increases with paternal age. In contrast, Glaser et al, reported a significantly greater mutation rate in a group of young men who had children and suggested that there are many other relevant environmental factors in addition to paternal age. [8],[9]

Holten et al, [10] conclude that there is a genetic anomaly causing variable and uncoordinated differentiation of the mesenchyme at the time of embryologic separation into various skeletal components, particularly in the distal limb and craniofacial skeleton. The disease process continues postnatally, especially in endochondral bone growth.

Apert's syndrome occurs as a result of androgen end organ hyper-response affecting the epiphyses and sebaceous glands that results in early epiphyseal fusion leading to short stature, short and fused digits and acrocephaly. [11]

 Case Report



An 18-months-old male child was referred to Calicut dental college and hospital because of a delayed eruption of primary teeth. The baby had an abnormal shape of the head, webbed fingers and developmental delay. He was the first child born to nonconsanguineous parents. Pregnancy and labor were uneventful and there was no history of taking any drugs during the entire term of pregnancy. His mother was 40 years old and his father was 48 years old. The family history contained no report of similar cases.

At birth, the child had craniosynostosis, brachycephaly, and syndactyly of hands and feet. Recently, he underwent cranioplasty to reduce intracranial and ocular pressure. He had mild developmental delay.

Clinical examination revealed features of acrocephalosyndactyly. The baby had a short anteroposterior diameter with high, full forehead and flat occiput (brachycephaly). Face was mildly flattened; there was hypertelorism, ocular proptosis, downslanting palpebral fissures. The nose was small, nasal bridge is depressed, which gave a "parrot's nose aspect" [Figure 1]. The middle third of the face was hypoplastic, absence of lip closure, prominent frontal area, ears were wide, and displaced downwards, the palate was high arched with pseudo cleft in its posterior third and eruption of primary teeth was delayed. [Figure 2].

Syndactyly (base ball glove appearance) involving second, third, and forth digits of both hands and feet [Figure 3] and [Figure 4]. The feet shoed "sock foot deformity". The plantar arches were normal. The shoulder, hip, ankle and knee joints and spine were normal.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}

Cardiovascular defects include ACHD, ASD, along with epilepsy and mental retardation.

CT scan showed bony discrepancy and decreased antero- posterior size of cranium, as well as increased vertical length, yielding a turricephaly (tower-shaped skull) with coronal synostosis [Figure 5].

 Discussion



This patient demonstrated the clinical triad that characterizes Apert syndrome: Brachycephalic skull, midface hypoplasia and syndactyly of hands and feet. The cranial features are characterized by early fusion of skull bones, mainly coronal, sometimes lambdoid sutures. The calvarium is lengthened vertically and shortened in the antero-posterior dimension resulting in a flattened occiput and a prominent frontal area.

Osseous and or cutaneous syndactyly of hands and feet are most common with complete fusion of second to forth digits. Cutaneous syndactyly of all toes with or without osseous syndactyly may also be seen.

Wilkie et al, [12] scored the severity of the syndactyly in Apert syndrome according to modified version of classification of Upton (1991).

Type I: Thumb and part of fifth finger are separate from syndactylous mass.

Type II: Little fingers are not separate.

Type III: Thumb and all fingers are included.

Syndactyly in foot may involve mainly three digits (type I) or digits two- five with a separate toe (type II) or be continuous (type III).

Kreiborg et al, [9] found fusion of cervical vertebrae in 68% of patients with Apert syndrome and multiple fusions in 31%. C5 - C6 fusion was most common.

The commonly associated features include cardiac anomalies, visual and hearing defects.

Varying degrees of mental deficiency have been associated with Apert's syndrome. Individuals who have done craniectomy in early life may have improved intelligence.

The maxilla is hypoplastic and retropositioned. The palate is high arched and narrow transversely. Pseudo cleft palate along with an anteriorly tipped palatal plane is common. The soft palate is thick and relatively long considering the maxillary retroposition with a 30% incidence of soft palatal clefting. [13]

The maxillary dental arch is v-shaped and there can be some compensatory growth of the alveolar base. Most probably, the alveolus thickens to accommodate the teeth that are impacted and crowded to an extreme degree in a small maxilla. The maxilla slants down posteriorly. As a result, open bite is common, if untreated, the maxilla-mandibular discrepancy and class III malocclusion worsens with age.

The appearance of a patient with Apert syndrome is prognathic. The "pseudoprognathic" appearance is basically due to maxillary retroposition. Impactions, severe crowding of developing teeth within the alveolus, delayed eruption, thick gingival and sometimes supernumerary teeth or congenitally missing teeth are the hallmarks of the maxillary dental development in the Apert patient. There is severe arch length deficiency to accommodate the tooth material. There is a mean dental developmental delay of 0.96 years, with a range of 0.5 to 2.9 years. It is postulated that mutation in the FGFR2 gene has an effect on the mesenchymal development, which has an effect on tooth morphogenesis.

Treatment of these patients is done by multidisciplinary team. Planning of surgery should be done in stages: Craniotomy aims to decompress the brain and is done in infancy; advancement of the middle third improves airway- nasal flow and may be done in puberty and finally orthognathic surgery improves occlusion and dental esthetics and may be done in adolescence. [14]

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