Michail-Matsoukas-Theodorou Rubinstein syndrome
- 1. Baghdad Medical City and the National Center of Training and Development, Iraq
CITATION
Al-Mosawi AJ. Michail-Matsoukas-Theodorou Rubinstein syndrome. Ann Pediatr Child Health 2020; 8(10): 1212.
EDITORIAL
Syndromes in medicine are generally or traditionally named after the physician or physicians that initially reported them or provided the earliest satisfactory clinical picture or the best description of the syndrome. However, a large number of rare syndromes have been described by doctors through out the world before the era of the internet which has been associated with easier access to medical literature throughout the world. Regrettably, several syndromes have been attributed unfairly and inappropriately to physicians other that those first described them [1-6].
Michail-Matsoukas-Theodorou Rubinstein syndrome is a rare clinical syndrome characteristically associated with Broad thumbs and big toes. It is generally diagnosed in most patients by the characteristic concurrence of broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial dysmorphism with beaked or straight nose, antimongoloid slant of palpebral fissures, hypertelorism and mental or developmetal retardation. A variety of less characteristic abnormalities have also been observed including prominent forehead, low set ears, high arched palate, and congenital heart defect [7-9].
The syndrome was first reported in a French orthopedic medical journal in 1957 by Greek doctors “Michail, Matsoukas, and Theodorou”. They reported a 7-year old boy with radically deviated/arched thumbs, long nose, muscular hypotonia, along with physical and mental underdevelopment [7]. Unfortunately, most medical literature ignored their first description and gave the credit solely to Rubinstein and Taybi who published further cases of the syndrome during the 1960s [8,9].
The syndrome has not been reported or well documented in Iraq [10-12], but a new syndrome that have some resemblance to Michail-Matsoukas-Theodorou Rubinstein syndrome has been described [13].