Le syndrome d'apert

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Abstract

Le syndrome d'Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d'hypertension intracrânienne chronique responsable d'une cécité et d'une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection.

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Most cited references 14

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Visceral anomalies in the Apert syndrome.

Lewis Cohen, S. Kreiborg (1993)

We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise.

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Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.

Peter Anderson, Dinesh Selva, J J Khong … (2006)

To survey the spectrum of ophthalmic morbidity in Apert's syndrome after craniofacial surgery. A retrospective study of patients with Apert's syndrome managed at the Australian Craniofacial Unit from 1975 to 2004. Sixty-one patients (31 females and 30 males) had final ophthalmic reviews at a mean age of 9.3 years (standard deviation, 9.2; range, 0.2-48.3; median, 8.2 years). Patients were identified from the unit database, and case notes were reviewed. Cases that had or =0.75 diopters was present in 16 cases (50%). Visual impairment is a common finding in Apert's syndrome and amblyopia is the major cause. Ametropia, astigmatism, anisometropia, and strabismus frequently occur in patients with Apert's syndrome at final ophthalmic review. Although optic atrophy was the major cause of visual loss in the era prior to craniofacial surgery, the prevalence of optic atrophy is low since the adoption of current surgical protocols. Corneal damage also contributed toward visual impairment. Early detection and adequate management of amblyopia, timely decompressive surgery before the presence of optic atrophy, and protection of the cornea should be the management goals of ophthalmologists in craniofacial units managing these patients.

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Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment.

L A Giglio, L Portela, Fabiano Fernandes … (2004)

Apert Syndrome, also called acrocephalosyndactylia type 1, is characterized by craniostenosis with early fusion of sutures of the vault and/or cranial base, associated to mid-face hypoplasia, symmetric syndactylia of the hands and feet and other systemic malformations. CNS malformations and intracranial hypertension are frequently observed in these patients. Early surgical treatment aims to minimize the deleterious effects of intracranial hypertension. Fronto-orbital advancement, the usual surgical technique, increases the intracranial Volume and improves the disposition of encephalic structures previously deformed by a short skull. This study analyzes CNS alterations revealed by magnetic resonance in 18 patients presenting Apert Syndrome, and the conformational alterations in the encephalic structures after surgical treatment. The patients' age in February 2001 ranged from 14 to 322 Months (m=107). Image study included brain magnetic resonance showing ventricular enlargement in five cases (27.8%), corpus callosum hypoplasia in five cases (27.8%), septum pellucidum hypoplasia in five cases (27.8%), cavum vergae in two cases (11.1%) and, arachnoid cyst in the posterior fossa in two cases (11.1%). Absence of CNS alterations was noted in 44.4% of cases. A corpus callosum morphologic index was established by dividing its height by its length, which revealed values that ranged from 0.4409 to 1.0237. The values of this index were correlated to the occurrence or absence of surgical treatment (p=0.012; t=2.83). Data analysis allowed the conclusion that the corpus callosum morphologic measure quantified the conformational alterations of the cerebral structures determined by the surgical treatment.

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Journal

Journal ID (nlm-ta): Pan Afr Med J

Journal ID (iso-abbrev): Pan Afr Med J

Journal ID (publisher-id): PAMJ

Title: The Pan African Medical Journal

Publisher: The African Field Epidemiology Network

ISSN (Electronic): 1937-8688

Publication date (Electronic): 18 February 2013

Publication date Collection: 2013

Volume: 14

Electronic Location Identifier: 66

Affiliations

[1 ]Service de pédiatrie, Hôpital Mère - Enfant, CHU Hassan II - Fès, Maroc

Author notes

[& ]Corresponding author: Dr Sarra Benmiloud, Service de Pédiatrie, Hôpital Mère -Enfant, CHU Hassan II - Fès, 30000, Maroc

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Publisher ID: PAMJ-14-66

DOI: 10.11604/pamj.2013.14.66.2178

PMC ID: 3617707

PubMed ID: 23565313

SO-VID: 4ab3da58-8b30-45e6-b3b4-6bd38d51cfca

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The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Le syndrome d'apert

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Abstract

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Pan African Medical Journal

Most cited references 14

Visceral anomalies in the Apert syndrome.

Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.

Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment.

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