How to Cite this Article: Dentici ML, Mingarelli R, Dallapiccola B. 2011. The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings. Am J Med Genet Part A 155: 459–465.
The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings†
Article first published online: 22 FEB 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 3, pages 459–465, March 2011
How to Cite
Dentici, M. L., Mingarelli, R. and Dallapiccola, B. (2011), The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings. Am. J. Med. Genet., 155: 459–465. doi: 10.1002/ajmg.a.33642
- Issue published online: 24 FEB 2011
- Article first published online: 22 FEB 2011
- Manuscript Accepted: 6 JUL 2010
- Manuscript Received: 1 MAR 2010
- Italian Ministry of Health (Ricerca Corrente 2010)
- DYSCERNE—A European Network of Centres of Expertise for Dysmorphology
- European Commission Executive Agency for Health and Consumers (DG Sanco). Grant Number: 2006122
- mental retardation;
- autosomal recessive
Blepharophimosis–mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro-esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden–Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young–Simpson syndrome subtype. © 2011 Wiley-Liss, Inc.