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Monozygotic twins with Apert syndrome.
Cleft Palate Craniofac J. 2008 Jan; 45(1):101-4.CP

Abstract

Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are sporadic, resulting from new mutations. Although there have been some descriptions of familial Apert syndrome, we could find only one previous description in the English literature about twinning in Apert syndrome. This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children.

Authors+Show Affiliations

Division of Plastic Surgery, Wilhelmina Children's Hospital, University of Utrecht, 3508 AB, Utrecht, The Netherlands. ccbreugem@umcutrecht.nlNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18215098

Citation

Breugem, Corstiaan C., et al. "Monozygotic Twins With Apert Syndrome." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 45, no. 1, 2008, pp. 101-4.
Breugem CC, Fitzpatrick DF, Verchere C. Monozygotic twins with Apert syndrome. Cleft Palate Craniofac J. 2008;45(1):101-4.
Breugem, C. C., Fitzpatrick, D. F., & Verchere, C. (2008). Monozygotic twins with Apert syndrome. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 45(1), 101-4. https://doi.org/10.1597/06-149.1
Breugem CC, Fitzpatrick DF, Verchere C. Monozygotic Twins With Apert Syndrome. Cleft Palate Craniofac J. 2008;45(1):101-4. PubMed PMID: 18215098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Monozygotic twins with Apert syndrome. AU - Breugem,Corstiaan C, AU - Fitzpatrick,Donald F, AU - Verchere,Cynthia, PY - 2008/1/25/pubmed PY - 2008/3/26/medline PY - 2008/1/25/entrez SP - 101 EP - 4 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac J VL - 45 IS - 1 N2 - Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are sporadic, resulting from new mutations. Although there have been some descriptions of familial Apert syndrome, we could find only one previous description in the English literature about twinning in Apert syndrome. This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children. SN - 1055-6656 UR - https://www.unboundmedicine.com/medline/citation/18215098/Monozygotic_twins_with_Apert_syndrome_ L2 - https://journals.sagepub.com/doi/10.1597/06-149.1?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -