Dandy-Walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritance

Abstract

We describe an infant with Dandy-Walker malformation and tetramelic postaxial polydactyly type 1A. Parental consanguinity reinforces previous suggestions for autosomal recessive inheritance.

First-Trimester Transvaginal Ultrasonographic Diagnosis of Dandy-Walker Malformation

“…4 Initial reports of recurrence of this condition of between 1 and 5% have been supplemented by recent reports of autosomal and X-linked recessive transmission of Dandy-Walker malformation in some families. [7][8][9][10][11] Our case and other early reports of Dandy-Walker malformation support that only extreme variants can be diagnosed early. [4][5][6] Mild cases or variants may only be recognized later because complete closure of the vermis (leaving the foramen of Magendi open) is completed not before 18 to 20 weeks' postmenstrual weeks.…”

Pierquin Syndrome: Report of a New Case

“…Another case describing a child born from consanguineous parents was reported and an autosomal recessive inheritance pattern was suggested. 6 Finally, Passalacqua et al 2 reported another unique case of a child born from nonconsanguineous healthy parents, presenting with a congenital heart disease. This child had a patent ductus arteriosus (which was treated with indomethacin and responded well at first), a moderate aortic valve dysplasia, and a mild aortic stenosis, which later progressed to severe stenosis.…”

“…The clinical features of all cases reported in the literature to date are summarized in ►Table 1. 1,2,5,6 The term Pierquin syndrome (Online Mendelian Inheritance in Man [OMIM] #220220), was proposed by Passalacqua et al 2 to describe Dandy-Walker malformation with postaxial polydactyly. Herein we reported on a new case of this rare entity in a child with parental consanguinity and also congenital heart disease.…”

Ecological aspects of the manufacture and application of highly pure liquid substances

“…Hydrocephalus is associated with numerous negative effects in both children and adults, including intellectual disabilities, urinary incontinence, sexual impairment, epilepsy, visual impairment, and deafness (Simpson and Hemmer, 1993). There is a wide variety of inherited disorders associated with hydrocephalus, including ciliary dyskinesia (al‐Shroof et al, 2001), Dandy‐Walker malformation (Cavalcanti and Salomao, 1999; McKee et al, 2001), and a number of X‐linked disorders (Brooks et al, 1994; Czarnecki et al, 1996; Kenwrick et al, 1996; Katsuragi et al, 2000).…”