Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).

Abstract

Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now been described in 24 individuals, with a predominance of females (21:3). We report an affected woman who gave birth to a male infant with omphalocele, hypoplastic kidneys, and the skeletal changes of this disorder; he died soon after birth. Histologic studies of the calvaria and long bones showed normal maturational sequences, but suggest that remodeling was not normal. This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. We suggest that the gene for the MNS may also cause a syndrome of multiple abnormalities that can be lethal and that this more severe phenotype in males may account for the altered sex ratio among reported cases. Both X-linked dominant and autosomal-dominant sex-limited inheritance are feasible interpretations of the existing information.