The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs

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.