title: The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
abstract: 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.
authors.affiliation: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Hana
authors.initials: H
authors.lastname: Sroka
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
authors.forename: Randall S
authors.initials: RS
authors.lastname: Colby
authors.forename: Greg
authors.initials: G
authors.lastname: Ryan
authors.forename: Ants
authors.initials: A
authors.lastname: Toi
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Sandra
authors.initials: S
authors.lastname: Viero
authors.forename: Louise
authors.initials: L
authors.lastname: Devisme
authors.forename: Odile
authors.initials: O
authors.lastname: Boute-Bénéjean
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000853:Anophthalmos / Q000235:genetics / Q000473:pathology*; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male