New autosomal dominant branchio-oculo-facial syndrome

American Journal of Medical Genetics
A FujimotoM G Wilson

Abstract

We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears in several persons in 3 families. In each of the 3 families, an affected parent had at least one affected child. Father-to-son transmission in one of these families ruled out X-linked inheritance. Other anomalies include coloboma, microphthalmia, auricular pits, lip pits, highly arched plate, dental anomalies, and subcutaneous cysts of the scalp. Premature graying of hair occurred in the affected adults. Growth retardation, developmental delay, and hand anomalies are variable components of the syndrome.

References

Sep 1, 1957·The Journal of Laryngology and Otology·M S HARRISON
Apr 1, 1960·Plastic and Reconstructive Surgery and the Transplantation Bulletin·A W FARMER, M D MAXMEN

❮ Previous
Next ❯

Citations

Sep 1, 2005·Indian Journal of Pediatrics·M L KulkarniPreethi M Kulkarni
Jun 7, 2005·International Journal of Pediatric Otorhinolaryngology·Ozcan OzturkEnder Guclu
Dec 20, 2005·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·D J VerretP Craig Hobar
Jul 25, 2000·International Journal of Pediatric Otorhinolaryngology·E RavehV Forte
Jun 1, 1992·Journal of Medical Genetics·D W Fielding, A E Fryer
May 5, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Eva GallianiMarie-Paule Vazquez
Jun 1, 1994·European Journal of Pediatrics·R KönigC Dukiet
Apr 1, 1992·European Journal of Pediatrics·D MazzoneC Carpinato
Sep 12, 2012·Annales de dermatologie et de vénéréologie·F FrascariJ Mazereeuw-Hautier
Apr 28, 2012·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS·Olivier AbboPhilippe Galinier
Feb 1, 1991·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·L M GonzálezH Borrego Pintado
Aug 17, 2005·International Journal of Dermatology·Mohammad A El DaroutiIman El Nabarawi
Feb 12, 2009·American Journal of Medical Genetics. Part a·Mustafa TekinLevent Sennaroğlu
Feb 14, 2009·American Journal of Medical Genetics. Part a·Daniel R JensenMarci M Lesperance
Jan 5, 2011·American Journal of Medical Genetics. Part a·Jeff M MilunskyAngela E Lin
Mar 16, 2013·American Journal of Medical Genetics. Part a·Shannon K LeBlancChristopher P Barnett
Jan 16, 2015·Annals of Human Genetics·Tatiana I MeshcheryakovaGennady R Mutovin
Apr 2, 2010·American Journal of Medical Genetics. Part a·Judith ReiberWalter Just
Nov 23, 2006·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS· Hiroshi Furukawa Yuhei Yamamoto
Mar 30, 1999·American Journal of Medical Genetics·S KumarC W Cremers
May 5, 2017·Ophthalmic Plastic and Reconstructive Surgery·Mohammad Javed Ali, Friedrich Paulsen
Apr 2, 1998·Australian and New Zealand Journal of Ophthalmology·C S SuT J Sullivan
May 29, 2004·Pediatric Dermatology·Noah S ScheinfeldValerie Nozad
Aug 26, 1998·American Journal of Medical Genetics·K ChrzanowskaA Kowalska
Feb 15, 1994·American Journal of Medical Genetics·M McCool, D D Weaver
Mar 13, 1995·American Journal of Medical Genetics·A E LinP Meinecke
Sep 15, 1992·American Journal of Medical Genetics·S SchmerlerF Desposito
Sep 1, 1991·American Journal of Medical Genetics·D WellesleyJ Goldblatt
Jun 5, 2010·Annals of Dermatology·Min Young Park, You Chan Kim
Apr 29, 1998·American Journal of Medical Genetics·S KumarW J Kimberling
Sep 9, 2016·The Journal of Craniofacial Surgery·Sojung YiAlbert K Oh
Oct 7, 1998·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·S BennaceurG Couly
Feb 1, 1992·Clinical Genetics·A V HingS B Dowton
Jun 1, 1995·Clinical Genetics·M E EversB C Hamel
Jan 1, 1991·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·A E LinA W Biglan
Aug 19, 2006·Journal of Pediatric Ophthalmology and Strabismus·Robert M Saltzmann, Gary S Lissner

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

American Journal of Medical Genetics
A E LinP Meinecke
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
A E LinA W Biglan
International Journal of Pediatric Otorhinolaryngology
E RavehV Forte
© 2021 Meta ULC. All rights reserved