An orthodontic perspective on Larsen syndrome

Abstract

Background Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we performed orthodontic analyses, including skeletal and occlusal evaluations, to examine whether the craniofacial skeletal morphology leads to the craniofacial anomalies in LS. Case presentation A 5 year old Japanese girl who was clinically diagnosed with LS was referred to the orthodontic clinic in the Fukuoka Dental College Medical and Dental Hospital because of a malocclusion. Clinical findings at birth were knee-joint dislocations, equinovarus foot deformities, and cleft soft palate. The patient showed craniofacial anomalies with hypertelorism, prominent forehead, depressed nasal bridge, and flattened midface. To evaluate the craniofacial skeletal morphology, cephalometric analysis was performed. In the frontal cephalometric analysis, the larger widths between bilateral points of the orbitale were related to hypertelorism. The lateral cephalometric analysis revealed the midface hypoplasia and the retrognathic mandible. These findings were responsible for the flattened appearance of the patient’s face, even if the anteroposterior position of the nasion was normal. Her forehead looked prominent in relation to the face probably because of the retrognathic maxilla and mandible. Both the study model and the frontal cephalometric analysis indicated constriction of the upper and lower dental arches. The posterior crossbite facilitated by the premature contacts had developed in association with the constriction of the upper dental arch. Conclusions This patient had some craniofacial anomalies with characteristic appearances in LS. It was evident that the underlying skeletal morphology led to the craniofacial dysmorphism.

Developmental Foot Deformities in Patients with Connective Tissue Disorders

“…The most common foot deformity in patients with LS is talipes equinovarus (clubfoot) deformity 44,45,51,52 . Diagnosis of clubfoot requires very detailed clinical assessment and is commonly managed with the Ponseti method of serial casting followed by percutaneous Achilles tenotomy, whereas surgical correction is reserved for patients who fail conservative management 44,51-54 . LS-related clubfoot deformity carries a high risk of recurrence after conservative management, making the decision to undergo repeat casting or surgical correction a crucial one to optimize patient outcomes 54 .…”

“…LS was initially described in 1950 by Dr. Loren J. Larsen and has an incidence of 1 in 100,000 births across the Western population 44,45 . LS is inherited in both autosomal dominant and recessive forms with equal penetrance in male and female patients 44 .…”

Mitral Valve Prolapse and Non-Syndromic and Syndromic Variety

“…Синдром Larsen относится к редким (≈1:100 000 новорожденных) генетическим заболеваниям, остеохондродисплазиям, вызванным миссенс-мутациями в гене, кодирующем филамин B (FLNB), локус которого расположен в области хромосомы 3p21.1-14.1, содержащей ген коллагена типа VII [44]. Эти мутации вызывают ускоренный апоптоз в эпифизарных пластинах роста.…”

Malocclusion and Dental Growth Disorders: Diagnostic Criteria or Clinical Manifestations of Hereditary Connective Tissue Disorders?

“…Синдром Ларсена (СЛ) -гетерогенная группа редких ННСТ; существуют и аутосомно-рецессивные, и аутосомно-доминантные типы наследования заболевания. Распространенность СЛ составляет 1 на 100000 новорожденных в год [23]. Для СЛ характерны лицевые дизморфии, такие как гипертелоризм, гипоплазия и ретрогнатия нижней челюсти, а также гиподонтия и сужение зубных дуг, в ряде случаев отсутствие зубов (1,6-10,1%) [24,25], расщелина твердого нёба.…”

“…Высокая распространенность оральных аномалий связана с нарушениями формирования костной ткани у таких www.jscientia.org пациентов, дефицитом коллагеновых белков в ткани десен и недостаточной минерализацией костей, а также дисфункцией височно-нижнечелюстного сустава [33,36]. При этом степень выраженности этих нарушений зачастую значительная, требующая многоэтапной и длительной ортодонтической коррекции [14,15,19,23].…”