The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: H
elv Paediatr Acta 14:213-216] and further delineated by Gorlin et al, [1975
: A Selected Miscellany, p 39-50], is characterized by short stature, slend
er body build, craniofacial anomalies, microtia, delayed skeletal developme
nt, hypogonadism, and absence of the patellae, It has also been called the
ear-patella-short stature syndrome [Boles et al,, 1994: Clin Dysmorphol 3:2
07-214]. We report on two brothers with Meier-Gorlin syndrome, the younger
of whom was more severely affected. Both patients had severe deafness and c
ongenital labyrinthine anomalies, which have not previously been described
as features of this syndrome. The neuromotor and mental development of thes
e patients was adversely affected by late diagnosis, deafness, and their so
ciocultural environment, but their cognitive ability fell within the range
observed in other Meier-Gorlin patients. Neuroradiographic imaging and func
tional inner ear investigations are recommended in the diagnostic workup of
this rather specific, probably autosomal recessive mental retardation synd
rome with multiple congenital anomalies. (C) 1999 Wiley-liss,Inc.