Six children with bilateral or unilateral anophthalmia were described. Malformations of the face and the extremities, stunted growth, hydrocephalus, muscle hypotony and mental retardation in varying degrees and combinations were also found. The genesis is not clear. With two siblings who exibited a combination which has not been described previously of anophtalmia on one side and microphthalmia on the other together with a cutaneous hexadactyly, the fact that the combination occurs in both children and that the mother exibits a "incomplete form" (?) of the ophthalmologic symptom tends to indicate that the cause is genetic.
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J Craniofac Surg
September 2023
Craniofacial Surgeon of the Hospital for Rehabilitation of Craniofacial Anomalies and Professor of Medicine. University of São Paulo, Bauru, SP, Brazil.
Objective: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs).
Design: Descriptive, cross-sectional, retrospective study.
Setting: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP).
J Equine Vet Sci
May 2022
Department of Veterinary Pathology, Federal University of Rio Grande do Sul, Bento Gançalves Av., Porto Alegre, Rio Grande do Sul, Brazil.
J Genet
September 2018
Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, People's Republic of China.
Congenital anophthalmia is a rare eye anomaly which lacks a recognizable eye in the orbit. It can be isolated (nonsyndromic) or be observed as a sign of other diseases (syndromic). A Chinese infant was born with bilateral anophthalmia and palpebral fissure closures.
View Article and Find Full Text PDFJ Med Case Rep
August 2018
Westmead Institute for Maternal and Fetal Medicine, Westmead Hospital, Corner Hawkesbury Road and Darcy Road, Westmead, NSW, 2145, Australia.
Background: Microphthalmia and anophthalmia are rare congenital fetal abnormalities. The combined incidence is estimated at 1 in 10,000 births. These two conditions arise from complex and incompletely understood genetic and/or environmental causes.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!