[Bilateral familial anophthalmos].
In the examined family the proband, a 14 months old male, presented a bilateral anophthalmos, bilateral cryptorchism, phimosis and decalcification of the nails. The palpebral fissures and the eyelids are smaller than normal; the orbit was empty, clad by a connective tissue without ocular buds. The testicles are unpalpable in the inguinal canal. The proband have a normal karyotype. Also a brother of the proband, dead for meningitis (age five months), had bilateral anophthalmos. The maternal branch of the family is lacking in hereditary pathology. On the contrary, the anamnesis of the paternal branch present very interesting data. His grandmother married twice; from the first marriage came, at the second generation, the sibship of the father, who had a sister with Franceschetti syndrome and another sister with double lower dental arch. From a second marriage originated, at the second generation, eleven siblings sibship, all seriously malformed and a dead infant, but the first-born having bilateral anophthalmos.
Manzini
C
C
Université de Milan, Faculté de Médecine et Chirurgie, Italie.
Orsini
G B
GB
Gualandri
V
V
D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree
Anophtalmie bilatérale familiale.