Smith-Lemli-Opitz syndrome in siblings.
This paper presents two brothers with incomplete expression of the Smith-Lemli-Opitz syndrome. A definite diagnosis, made after the birth of the second child, could only be reached when the clinical features of both patients were combined.
Karsten
J
J
Department of Paediatrics, University Medical School of Pécs, Hungary.
Kosztolányi
G
G
D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D013577:Syndrome