Bosma arhinia microphthalmia syndrome.
Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Other patients with this syndrome have been reported as cases of arhinia with associated defects. During embryonic development, the nasal placodes form 28 days after conception shortly after the optic vesicles makes contact with the overlying surface ectoderm at 26-27 days, and both layers invaginate to form the eyes between 34 and 44 days. Mice with homozygous mutations of Pax6, manifest underdevelopment of ocular and nasal structures, and a network of developmentally regulated genes function downstream of Pax6 to form nasal, ocular, and pituitary structures. These genes represent candidate genes for this disorder, and familial recurrence of Bosma syndrome has been reported to occur. This report describes two sporadic unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases.
Graham
John M
JM
Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, USA.
Lee
John
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome; D000097607:Homeobox Protein SIX3
D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D000097607:Homeobox Protein SIX3; C000605730:PAX6 protein, human; C000605732:Pax6 protein, mouse