Severe limb abnormalities: Nievergelt or new syndrome?
Since the characteristic mesomelic limb abnormalities of the autosomal-dominant Nievergelt syndrome (NS) may be casually nonspecific, we are unsure whether our patient with these abnormalities but also with severe, symmetrical hand and foot anomalies has an unusual form of Nievergelt syndrome or a previously apparently undescribed syndrome. This infant's condition could represent an autosomal-dominant new mutation, or an autosomal or X-linked recessive disorder.
Vasil
M
M
Department of Genetics, Regional Hospital, Humene, Slovakia.
Baxova
A
A
Kozlowski
K
K
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D001132:Arm / Q000002:abnormalities*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007866:Leg / Q000002:abnormalities*; D008297:Male; D013577:Syndrome; D014960:X Chromosome