Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 12, Pages 1268-1281Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31788
Keywords
anophthalmia; microphthalmia; diaphragmatic eventration; diaphragmatic hernia; cardiac abnormalities; cleft palate; limb abnormalities
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The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996]. The condition is known as Spear syndrome and Matthew-Wood syndrome, although genetic heterogeneity cannot be ruled out. We report on eight patients with this condition including a living child, three sibs and three isolated cases. Most presented with fetal ultrasound findings of microphthalmia/anophthalmia, and diaphragmatic eventration/hernia and in five, cardiac abnormalities were also found. The earliest detection was at 20 weeks gestation. This is the second report of sibs affected with this condition, which supports an autosomal recessive mode of inheritance. We present the first and only reported living patient with this condition and expand the intrafamilial, interfamilial, and ethnic variability of this condition. We suggest changing the condition's name to PDAC to reflect the most important components of this condition. (c) 2007 Wiley-Liss, Inc.
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