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

Chitayat, David; Sroka, Hana; Keating, Sarah; Mortier, Geert; Colby, Randall S.; Ryan, Greg; Toi, Ants; Blaser, Susan; Viero, Sandra; Devisme, Louise; Boute-Benejean, Odile; Manouvrier-Hanu, Sylvie; Loeys, Bart; Rauch, Anita; Bitoun, Pierre

doi:10.1002/AJMG.A.31788

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

Author

Chitayat, David

Sroka, Hana

Keating, Sarah

Mortier, Geert

Colby, Randall S.

Ryan, Greg

Toi, Ants

Blaser, Susan

Viero, Sandra

Devisme, Louise

Boute-Benejean, Odile

Manouvrier-Hanu, Sylvie

Loeys, Bart

Rauch, Anita

Bitoun, Pierre

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.

Language

English

Source (journal)

American journal of medical genetics : part A. - Bognor Regis, 2003, currens

Publication

Bognor Regis : 2007

ISSN

1552-4825 [print]

1552-4833 [online]

DOI

10.1002/AJMG.A.31788

Volume/pages