Literature DB >> 1240778

Acrocephalopolysyndactyly, type Noack, in a large kindred.

M Robinow, T J Sorauf.   

Abstract

ACS was highly variable in this family. At least one affected member could have passed as uninvolved. Others could have been assigned to ACS types III, IV or V. The current classification is probably sound, but great caution is needed to assign individual cases of ACS to any group other than ACS types I or II or the Carpenter syndrome. The great variability of ACS has obvious implications for genetic counseling.

Entities:  

Mesh:

Year:  1975        PMID: 1240778

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  10 in total

1.  The Greig polysyndactyly-craniofacial dysmorphism syndrome.

Authors:  J P Fryns; W Coeck; H van den Berghe
Journal:  Eur J Pediatr       Date:  1977-11-04       Impact factor: 3.183

2.  Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

Authors:  A O Wilkie; S P Yang; D Summers; M D Poole; W Reardon; R M Winter
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 3.  Saethre-Chotzen syndrome.

Authors:  W Reardon; R M Winter
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

4.  Pitfalls of genetic counselling in Pfeiffer's syndrome.

Authors:  M Baraitser; M Bowen-Bravery; P Saldaña-Garcia
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

5.  Risk counselling in autosomal dominant disorders with undetermined penetrance.

Authors:  R M Pauli; A G Motulsky
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

6.  Linkage analysis in dominant acrocephalosyndactyly.

Authors:  J R Eastman; V Escobar; D Bixler
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

7.  A family study of craniosynostosis, with probable recognition of a distinct syndrome.

Authors:  C O Carter; K Till; V Fraser; R Coffey
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

8.  An unusual form of familial acrocephalosyndactyly.

Authors:  I D Young; P S Harper
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

9.  Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.

Authors:  H Fryssira; P Makrythanasis; A Kattamis; K Stokidis; B Menten; K Kosaki; P Willems; E Kanavakis
Journal:  Mol Syndromol       Date:  2011-11-12

10.  A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

Authors:  Arpita Rai Thakur; Venkatesh G Naikmasur
Journal:  Indian J Dent       Date:  2014-04
  10 in total

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