Markatos Konstantinos, Mavrogenis Andreas F, Karamanou Marianna, Androutsos Georgios
Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
First Department of Orthopaedics, National and Kapodistrian University of Athenss, School of Medicine, 41 Ventouri Street, 15562, Holargos, Athens, Greece.
Eur J Orthop Surg Traumatol. 2018 Dec;28(8):1569-1572. doi: 10.1007/s00590-018-2233-8. Epub 2018 May 24.
Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity. This condensation is reminiscent of the one observed in Albers-Schönberg disease, which differs essentially in dysmorphism of the skull (no closure of fontanelles, gaping sutures, hypoplasia of the lower jaw with open mandibular angle) and extremities (hypoplasia or osteolysis of the phalanges). The patients have a short stature, short hands and feet, and malformed nails. The first scientifically correct diagnosis was made by Dr. G. Séjournet who, under the guidance of his teacher Professor J.-A. Lièvre, performed extensive research and diagnosed Henri de Toulouse-Lautrec with achondroplasia-related dwarfism. This article describes pycnodysostosis and reports the life of the painter Henri de Toulouse-Lautrec who died from the disease.
致密性成骨不全症或马罗-拉米综合征是一种基因型骨病，呈常染色体隐性遗传，由拉米和马罗于1962年确定。其特征为骨骼弥漫性致密，伴有皮质增厚和髓腔变窄。这种致密类似于在阿尔伯斯-尚伯格病中观察到的情况，主要区别在于颅骨畸形（囟门未闭合、缝裂开、下颌骨发育不全伴下颌角张开）和四肢畸形（指骨发育不全或骨质溶解）。患者身材矮小、手足短小且指甲畸形。首个科学正确的诊断由G. 塞茹尔内医生做出，他在其老师J.-A. 利夫尔教授的指导下进行了广泛研究，并将亨利·德·图卢兹-洛特雷克诊断为与软骨发育不全相关的侏儒症。本文描述了致密性成骨不全症，并讲述了死于该病的画家亨利·德·图卢兹-洛特雷克的生平。
