Definition: Anencephaly is a designation for congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased to small masses attached to the base of the skull. In anencephaly, the absence of the brain and calvaria can be total or partial. Anencephaly is one of the neural tube defects (NTDs).
The etiology is unknown. Whether the bony tissue or soft brain tissue is a primary factor is also unknown.
Synopsis
congenital absence of the cranial vault (...)
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Malformations
Articles
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anencephaly
21 May 2004 -
tetralogy of Fallot
9 January 2005Definition: Tetralogy of Fallot is the association of a pulmonary valve stenosis, a ventricular septal defect (VSD), an overriding aorta and a right ventricular hypertrophy.
Tetralogy of Fallot is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Sib recurrence risk is 1% for tetralogy.
Videos
One Minute #CardioEd: Tetralogy of Fallot
https://twitter.com/arh_cardio/status/856399183154212864
Types
autosomal dominant Tetralogy (...) -
vesical diverticulum
17 March 2006See also
urachal anomalies urachal fistula urachal sinus urachal cyst vesical diverticulum (bladder diverticulum) -
pilonidal sinus
5 January 2005Digital cases
Case 268 : Caudal pilonidal sinus with nervous tissue
Variants
pilonidal sinus cyst
pilonidal sinus with nervous tissue -
polysyndactyly
1 December 2004Etiology (exemples)
Greig cephalopolysyndactyly syndrome (MIM.175700) (GLI3 mutations at 7p13)
acrocephalopolysyndactyly syndromes (ACPS) ACPS1 (acrocephalopolysyndactyly type 1) ACPS2 (acrocephalopolysyndactyly type 2) (Carpenter syndrome) (MIM.201000) ACPS3 (acrocephalopolysyndactyly type 3) (Sakati-Nyhan syndrome) (MIM.101120) ACPS4 (acrocephalopolysyndactyly type 4) (Goodman syndrome) (MIM.201020)
triphalangeal thumb-polysyndactyly syndrome (MIM.190605) (7q36)
See also: (...) -
radial ray aplasia
9 May 2005Synopsis
radial agenesis (radial aplasia)
thumb agenesis
Associations: Syndromal types
VATER association (VACTERL association)
Fanconi disease (Fanconi syndrome or Fanconi anemia)
Pallister-Hall syndrome
Cateye syndrome
Duane anomaly with thenar hypoplasia (Duane-radial ray syndrome or Okihiro syndrome) (MIM.607323) (SALL4 mutations)
craniosynostosis with radial defects
Baller-Gerold syndrome (MIM.218600)
Saethre-Chotzen syndrome (SCS) (MIM.101400)
hemifacial (...) -
bilateral radial agenesis
6 April 2005bilateral radial aplasia
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central polydactyly
6 September 2005Definition: Central type polydactyly corresponds to the presence of centrally located supernumerary fingers. It is often associated with other malformations or syndromes.
See also
polydactylies -
forearm agenesis
7 December 2005See also
upper limb agenesis -
radial hypoplasia
14 April 2005Etiology (Exemples)
orofaciodigital syndrome type 10 (OFD10)
See also
radial malformations radial aplasia (radial agenesis)