Victor M Salinas-Torres1. 1. Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Tijuana, Baja California, Mexico, vm_salinas7@hotmail.com.
Abstract
INTRODUCTION: In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences. CASE REPORT: A Mexican 10-year-old boy with Say-Meyer syndrome is described. Additionally, he had C6 vertebral right pedicle agenesis, brachymesophalangy of the fifth fingers, bilateral widening of Sylvian fissure, and white matter amplitude as novel observed findings of the syndrome. CONCLUSION: This appears to be the first Say-Meyer syndrome patient with extracranial skeletal anomalies. In light of these manifestations, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with a significant clinical variability. Moreover, increasing evidence points to a variable expressivity of the same autosomal dominant mutation. Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.
INTRODUCTION: In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences. CASE REPORT: A Mexican 10-year-old boy with Say-Meyer syndrome is described. Additionally, he had C6 vertebral right pedicle agenesis, brachymesophalangy of the fifth fingers, bilateral widening of Sylvian fissure, and white matter amplitude as novel observed findings of the syndrome. CONCLUSION: This appears to be the first Say-Meyer syndrome patient with extracranial skeletal anomalies. In light of these manifestations, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with a significant clinical variability. Moreover, increasing evidence points to a variable expressivity of the same autosomal dominant mutation. Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.
Authors: M Tartaglia; V Bordoni; F Velardi; R T Basile; E Saulle; R Tenconi; C Di Rocco; P A Battaglia Journal: Childs Nerv Syst Date: 1999-08 Impact factor: 1.475
Authors: T S Karthik; N Rajendra Prasad; P Radha Rani; Rushikesh Maheshwari; P Amaresh Reddy; B V S Chakradhar; Bindu Menon Journal: Indian J Endocrinol Metab Date: 2013-10
Authors: Cyrus Azimi; Shelley J Kennedy; David Chitayat; Pranesh Chakraborty; Joe T R Clarke; Christopher Forrest; Ahmad S Teebi Journal: Am J Med Genet A Date: 2003-03-01 Impact factor: 2.802
Authors: Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka Journal: Eur J Hum Genet Date: 2017-05-17 Impact factor: 4.246