Literature DB >> 1472357

Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.

D Soekarman1, J P Fryns, H van den Berghe.   

Abstract

A boy is reported with the cloverleaf skull anomaly as part of the Pfeiffer syndrome. So far, this combination has only been observed in sporadic cases. However, the mother of this patient had also the syndrome of Pfeiffer, indicating that the cloverleaf skull abnormality may occur in familial cases. Development of the child after birth and therapeutic approaches are reported.

Entities:  

Mesh:

Year:  1992        PMID: 1472357

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  3 in total

Review 1.  Nervous system involvement in Pfeiffer syndrome.

Authors:  Ioannis N Mavridis; Desiderio Rodrigues
Journal:  Childs Nerv Syst       Date:  2020-10-20       Impact factor: 1.475

Review 2.  Pfeiffer syndrome.

Authors:  Annick Vogels; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-06-01       Impact factor: 4.123

3.  Ophthalmic considerations in patients with Pfeiffer syndrome.

Authors:  Jeremy D Clark; Christopher J Compton; Youssef Tahiri; William R Nunery; Hui Bae Harold Lee
Journal:  Am J Ophthalmol Case Rep       Date:  2016-04-07
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.