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  • Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition

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Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition
  1. Donna M Martina,
  2. Jerome L Gorskia,b
  1. aDepartments of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-0688, USA, bDepartment of Human Genetics, The University of Michigan, Ann Arbor, Michigan 48109-0688, USA
  1. Dr Gorski, Division of Pediatric Genetics, Room 3570 Medical Science Research Building II, Box 0688, University of Michigan Medical School, Ann Arbor, MI 48109-0688, USA,jlgorski{at}umich.edu

https://doi.org/10.1136/jmg.38.8.547

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    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 reports

    CASE 1

    A 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 …

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