Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.
We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs.
Kennedy
Shelley J
SJ
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Teebi
Ahmad S
AS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D016569:Blepharophimosis / Q000473:pathology; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology; D009666:Nose / Q000002:abnormalities; D013577:Syndrome