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• W2096585384 abstract "Editor—Microphthalmia and related ocular abnormalities are a common component of many multiple congenital anomaly (MCA) syndromes.1 Microphthalmia has a birth prevalence of between 1 and 1.5 per 10 000 and unilaterality is reported in a half of those cases associated with other anomalies.2 3 Of the many MCA syndromes associated with microphthalmia, several include skeletal defects and distal limb anomalies, including polydactyly, syndactyly, and radial aplasia. However, while many genetic conditions include both ocular and distal limb anomalies, none has been reported in association with delayed intramembranous ossification. Here, we report a family of three males with apparent autosomal dominant transmission of microphthalmia and related ocular abnormalities, postaxial polydactyly, and delayed intramembranous ossification. The affected males in this family appear to have a previously undescribed syndrome of multiple anomalies consistent with autosomal dominant inheritance.### CASE 1A 5 month old boy was referred for evaluation of multiple congenital anomalies including skeletal and unilateral ocular anomalies. He was born weighing 4167 g at 39 weeks' gestation to a 27 year old, gravida 2, para 1 mother. His father was 32 years old. No intrauterine exposure to alcohol or other teratogens was reported. He was diagnosed in the immediate postnatal period with a markedly enlarged right globe, opacification of the cornea and lens, and bilateral postaxial polydactyly. At 1 day of age, increased anterior chamber pressure was noted, and he underwent surgery for congenital glaucoma at the age of 1 week with revision at 1 month. Repeated examinations of the left eye showed no increased pressure and no abnormalities of the lens, iris, or retina. Within the first month of life, he underwent bilateral ligation of the supernumerary digits.Physical examination at the age of 5 months showed growth parameters on the 50th centile: weight 7.34 kg, length 66.5 cm, and OFC …" @default.
• W2096585384 created "2016-06-24" @default.
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• W2096585384 date "2001-08-01" @default.
• W2096585384 modified "2023-09-25" @default.
• W2096585384 title "Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition" @default.
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• W2096585384 doi "https://doi.org/10.1136/jmg.38.8.547" @default.
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