Literature DB >> 10584631

Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay.

G Boog1, F Sagot, N Winer, A David, M F Nomballais.   

Abstract

Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.

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Year:  1999        PMID: 10584631     DOI: 10.1016/s0301-2115(99)00021-4

Source DB:  PubMed          Journal:  Eur J Obstet Gynecol Reprod Biol        ISSN: 0301-2115            Impact factor:   2.435


  4 in total

Review 1.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

Review 2.  Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Authors:  Dinah M Clark; Ilana Sherer; Matthew A Deardorff; Janice L B Byrne; Kathleen M Loomes; Malgorzata J M Nowaczyk; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

3.  Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

Authors:  Usha Dave; Dhanlaxmi Shetty
Journal:  J Obstet Gynaecol India       Date:  2013-09-29

Review 4.  A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.

Authors:  Anca Maria Panaitescu; Simona Duta; Nicolae Gica; Radu Botezatu; Florina Nedelea; Gheorghe Peltecu; Alina Veduta
Journal:  Diagnostics (Basel)       Date:  2021-01-19
  4 in total

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