A case of PAGOD syndrome with hypoplastic left heart syndrome

Kim, Joon Bum; Park, Jeong-Jun; Ko, Jesang; Goo, Hyun Woo; Kim, Young Hwe; Park, In Sook; Yun, Tae Jin; Seo, Dong-Man

doi:10.1016/j.ijcard.2005.11.068

Cited by 25 publications

(13 citation statements)

References 6 publications

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“…At least 10% of patients die within one week, and all patients without treatment die in the first year of life. HLHS is known to be occasionally associated with the following genetic entities: (i) Mendelian disorders: Apert syndrome, Holt-Oram syndrome, Ellis-van Creveld syndrome, Smith-Lemi-Opitz syndrome, Beckwith-Wiedemann syndrome, CHARGE syndrome, DiGeorge syndrome, Heterotaxy, Allagile syndrome, Rubinstein-Taybi syndrome, short rib-polydactyly syndrome type 3, PAGOD syndrome (Natowicz et al 1988;Hanauer et al 2002;Robert et al 2007); (ii) Chromosomal abnormalities (including microdeletion syndromes): trisomy 13, trisomy 18, Turner syndrome, 7q35 deletion, Jacobsen syndrome and 16q24 deletion (Grossfeld 1999;Sedmera et al 2005); and (iii) Non-Mendelian disorders: Sirenomelia sequence (Kim et al 2007). However, a search of Englishlanguage publications failed to find any cases of Peters Plus syndrome associated with HLHS.…”

Section: Discussionmentioning

confidence: 99%

Severe Peters Plus syndrome‐like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome

Shimizu

Saito²,

Hoshino³

et al. 2010

Congenital Anomalies

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Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the B3GALTL gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and HLHS.

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Section: Discussionmentioning

confidence: 99%

Severe Peters Plus syndrome‐like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome

Shimizu

Saito²,

Hoshino³

et al. 2010

Congenital Anomalies

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“…Eleven cases (9 male and 2 female) have been reported to date (Table II) [Meacham et al, 1991;Sorgo et al, 1991;Maaswinkel-Mooij and Stokvis-Brantsma, 1992;Kennerknecht et al, 1993;Oyer et al, 1994;ManouvrierHanu et al, 2000;Macayran et al, 2002;Kim et al, 2007]. All have been isolated/sporadic except for a single report of this phenotype in a set of siblings suggesting the possibility of an autosomal recessive condition [Kennerknecht et al, 1993].…”

Section: Discussionmentioning

confidence: 99%

Vitamin A deficiency in an infant with PAGOD syndrome

Gavrilova

Babovic

Lteif

et al. 2009

American J of Med Genetics Pt A

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PAGOD syndrome is a rare condition characterized by multiple congenital anomalies including pulmonary artery and lung hypoplasia, agonadism, diaphragmatic abnormalities, cardiac defects, omphalocele, and various genital anomalies. The etiology of this condition is unknown but the spectrum of birth defects is similar to the developmental anomalies observed in vitamin A deficiency animal models. We describe an infant with PAGOD syndrome phenotype. The patient had a normal male karyotype and no copy number changes were seen on chromosome genomic hybridization (CGH) microarray. Endocrine evaluation was consistent with primary hypogonadism. The testes and Müllerian structures were absent by imaging studies, raising the possibility of arrest of early gonadogenesis. The plasma free vitamin A was low, consistent with moderate to severe vitamin A deficiency; the maternal plasma vitamin A level was normal. During pregnancy maternal vitamin A is taken up by retinol binding protein 4 (RBP4) which is expressed in the embryonic visceral endoderm from pregastrulational stages. This transport is mediated via the specific membrane receptor for RBP, stimulated by retinoic acid 6 (STRA6). STRA6 is widely expressed in human organ systems including the placenta during embryonic development. Mutations in the STRA6 gene result in Matthew-Wood syndrome, which demonstrates significant phenotypic overlap with PAGOD syndrome. Sequencing of STRA6 coding regions in our patient, revealed no mutations. We present a case of PAGOD syndrome with a review of the literature, posing the hypothesis that a vitamin A metabolic defect, other than transport mediated by STRA6 receptor, might have an etiological role in the development of this multiple congenital anomalies syndrome.

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“…Pulmonary stenosis can occur as part of more congenital cardiac malformations [1][2][3][4][5] or as rare primary isolated pulmonary stenosis [6,7]. It has been reported a primary isolated pulmonary artery stenosis in an asymptomatic 25-day-old newborn infant [6] and a rare case of isolated pulmonary stenosis in a 66-year-old woman has been reported too [7].…”

Section: Case Reportmentioning

confidence: 99%