| Vitamin A deficiency in an infant with PAGOD syndrome. | |
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MedLine Citation:
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PMID: 19760653 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 M??llerian 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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Authors:
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Ralitza Gavrilova; Nikola Babovic; Aida Lteif; Benjamin Eidem; Salman Kirmani; Timothy Olson; Dusica Babovic-Vuksanovic |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-01 Completed Date: 2009-12-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2241-7 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Fatal Outcome Female Humans Hypoplastic Left Heart Syndrome / complications*, diagnosis Infant, Newborn Lung Diseases / complications*, congenital Male Pregnancy Prenatal Diagnosis Syndrome Vitamin A Deficiency / complications*, congenital*, diagnosis |
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