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

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.

Genetics of microtia and associated syndromes

“…Meier–Gorlin syndrome (MGS; OMIM 224690) is an autosomal recessive disorder with microtia, absent patellae, craniofacial anomalies, and delayed skeletal development 131. It has been suggested that this syndrome is the human equivalent of the short ear mouse model, which carries a mutation in the bone morphogenetic protein 5 ( Bmp5 ) gene 132.…”