Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000261
Abstract: Introduction Apert syndrome (MIM 101200), first described by a French physician Eugene Apert in 1906 (DeGiovanni et al., 2007), is a rare autosomal dominant acrocephalosyndactyly syndrome type 1 with a birth prevalence of one in… read more here.
Keywords: diaphragmatic hernia; congenital diaphragmatic; apert syndrome; syndrome congenital ... See more keywords
A Rare Sporadic Polymalformative Syndrome with Congenital Abdominal Wall Defects. Caregivers and Parents Working Together Make Shared Ethical Decisions
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DOI: 10.11648/j.ajp.20170305.13
Abstract: Improvements in ultrasound technology and the appropriate timing of antenatal ultrasound has led to refined prenatal diagnosis and enhanced accuracy of diagnosis of fetal anomalies and makes it possible to treat or not at birth,… read more here.
Keywords: abdominal wall; rare sporadic; syndrome congenital; sporadic polymalformative ... See more keywords
Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly
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DOI: 10.3389/fgene.2021.768342
Abstract: Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases. In this study, we describe an extremely rare family with BHD syndrome and CCA. Objective: To… read more here.
Keywords: birt hogg; hogg dub; family; syndrome congenital ... See more keywords