Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder

• Published in: Clinical genetics Vol. 66; no. 1; pp. 23 - 29
• Main Authors: Rodríguez-Rojas, LX, García-Cruz, D, Mendoza-Topete, R, Barba, LB, Barrios, MT, Patiño-García, B, López-Cardona, MG, Nuño-Arana, I, García-Ortiz, JE, Cantú, JM
• Format: Journal Article
• Language: English
• Published: Oxford, UK; Malden, USA Munksgaard International Publishers 01-07-2004; Blackwell
• Subjects: Adult; Biological and medical sciences; Bone and Bones - abnormalities; Bone and Bones - diagnostic imaging; buphthalmos; Eye Abnormalities - diagnosis; Eye Abnormalities - genetics; Facies; Female; General aspects. Genetic counseling; Genes, Recessive; glaucoma; Glaucoma - diagnosis; Glaucoma - genetics; Humans; iridogoniodysgenesis; Iris - abnormalities; Male; Medical genetics; Medical sciences; phthisis bulbi; Radiography; Siblings; skeletal anomalies; Syndrome; Human; Family study; glaucoma; phthisis bulbi; Genetic disease; skeletal anomalies; Eye disease; Glaucoma (eye); iridogoniodysgenesis; Autosomal character; Recessive character; Genetics; Anomaly; buphthalmos
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.0009-9163.2004.00271.x

Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the proposita and her two brothers due to congenital glaucoma secondary to iridogoniodysgenesis (IGD). The purpose of this article is to describe the second familial case with IGD and skeletal anomalies as the family previously described by García‐Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.