Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)

Seller, Mary J.; Davis, Teresa B.; Fear, Claudine; Flinter, Frances; Ellis, Ian; Gibson, A. G. F.

doi:10.1002/(sici)1096-8628(19960329)62:3<227::aid-ajmg5>3.0.co;2-q

Cited by 39 publications

(42 citation statements)

References 11 publications

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“…W. Huang et al, 2009b; 2009a). It also included a number of transcription factors and signaling molecules, five of which are associated with orofacial clefting: Alx3, Foxc1, Foxc2, Gdf11, Stra6 ((Bahuau et al, 2002; Beverdam et al, 2001; McPherron et al, 1999; Seller et al, 1996; Winnier et al, 1997). This module fits well with the BMP, FGF and RA signals that integrate patterning of the olfactory placode and of the medial and lateral nasal processes (LaMantia et al, 2000; Maier et al, 2010; 2011; Sabado et al, 2012; Y.…”

Section: Resultsmentioning

confidence: 99%

Systems biology of facial development: contributions of ectoderm and mesenchyme

Hooper

Feng

et al. 2017

Developmental Biology

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The rapid increase in gene-centric biological knowledge coupled with analytic approaches for genomewide data integration provides an opportunity to develop systems-level understanding of facial development. Experimental analyses have demonstrated the importance of signaling between the surface ectoderm and the underlying mesenchyme in coordinating facial patterning. However, current transcriptome data from the developing vertebrate face is dominated by the mesenchymal component, and the contributions of the ectoderm are not easily identified. We have generated transcriptome datasets from critical periods of mouse face formation that enable gene expression to be analyzed with respect to time, prominence, and tissue layer. Notably, by separating the ectoderm and mesenchyme we considerably improved the sensitivity compared to data obtained from whole prominences, with more genes detected over a wider dynamic range. From these data we generated a detailed description of ectoderm-specific developmental programs, including pan-ectodermal programs, prominence- specific programs and their temporal dynamics. The genes and pathways represented in these programs provide mechanistic insights into several aspects of ectodermal development. We also used these data to identify co-expression modules specific to facial development. We then used 14 co-expression modules enriched for genes involved in orofacial clefts to make specific mechanistic predictions about genes involved in tongue specification, in nasal process patterning and in jaw development. Our multidimensional gene expression dataset is a unique resource for systems analysis of the developing face; our co-expression modules are a resource for predicting functions of poorly annotated genes, or for predicting roles for genes that have yet to be studied in the context of facial development; and our analytic approaches provide a paradigm for analysis of other complex developmental programs.

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Section: Resultsmentioning

confidence: 99%

Systems biology of facial development: contributions of ectoderm and mesenchyme

Hooper

Feng

et al. 2017

Developmental Biology

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“…Primary pulmonary agenesis or hypoplasia is a rare, mostly sporadic malformation [Boylan et al, 1977;Seller et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

et al. 1999

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We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.

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“…referred to as Matthew-Wood syndrome (MWS) by Seller et al (1996). Later in 2007, Chitayat proposed the acronym of PDAC (Pulmonary hyploplasia,/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia, and Cardiac defect) syndrome for this combination of features.…”

mentioning

confidence: 99%

“…This complex phenotype was referred to by many different names including MWS, PDAC syndrome, PMD (pulmonary agenesis-microphthalmia-diaphragmatic) defect, Spear syndrome, and Syndromic Microphthalmia 9 (MCOPS9, OMIM 601186). However, the original family described with MWS (Seller et al, 1996) had not been investigated at a genetic level previously. We received a DNA sample from the fetus described by Seller in 1996, who was found antenatally to have anophthalmia, lung hypoplasia, congenital heart defect, hypoplastic spleen, bicornuate and hypoplastic uterus, and facial minor anomalies, including a prominent nose, upturned tip, micrognathia, and flat, low set ears (Seller et al, 1996).…”

mentioning

confidence: 99%