Melnick-Needles syndrome: indication for an autosomal recessive form.
We describe three patients with bone changes and the facial characteristics of the Melnick-Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.
D000015:Abnormalities, Multiple / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D010375:Pedigree; D012306:Risk; D013577:Syndrome