Publication
Title
The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs
Author
Abstract
The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al, [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae, It has also been called the ear-patella-short stature syndrome [Boles et al,, 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. Both patients had severe deafness and congenital labyrinthine anomalies, which have not previously been described as features of this syndrome. The neuromotor and mental development of these patients was adversely affected by late diagnosis, deafness, and their sociocultural environment, but their cognitive ability fell within the range observed in other Meier-Gorlin patients. Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies. (C) 1999 Wiley-liss,Inc.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Publication
New York, N.Y. : 1999
ISSN
0148-7299
Volume/pages
84 :1 (1999) , p. 61-67
ISI
000079552900012
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021