No full text
Available on ORBi since
22 February 2016
Unpublished conference/Abstract (Scientific congresses and symposiums)
Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
JACQUINET, Adeline  ; VALDES SOCIN, Hernan Gonzalo  ; LIBIOULLE, Cécile  et al.


Full Text
There are no file associated with this item.

Send to


Keywords :
Femoro-facial syndrome; Mayer-Rokitansky-Kuster-Hauser syndrome; Müllerian agenesis; SMC2; CHFR; ZNF26; ZNF140; ZNF10; ZNF268; P2RX2; PEGAM5; GOLGA3; POLE1
Abstract :
[en] Daentl femoral-facial syndrome (FFS) includes bilateral femoral hypoplasia and particular facial features: long philtrum with thin upper lip, micrognathia with or without cleft palate, upward-slanted palpebral fissures, and hypoplastic alae nasi with a broad tip. The syndrome is clinically heterogeneous, and other malformations have been associated. Psychomotor and cognitive developments are usually normal. Etiology of this syndrome remains currently unknown. Most of the cases are sporadic. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. Our patient was the first child of unrelated parents. Very short femora were detected at fourth month of pregnancy. Birth height was 40 cm at term. FFS was diagnosed at birth, based on severe bilateral femoral hypoplasia and characteristic facial features with Pierre Robin sequence. Early psychomotor development was normal and walking alone was acquired at age two despite the absence of hip joints. At age seventeen, she was investigated for primary amenorrhea and was shown to have uterine aplasia, and thus Mayer-Rokitansky-Kuster-Hauser syndrome. Endocrine workup noted hyperandrogenism due to both ovarian and adrenal androgen overproduction. Recently, array CGH investigation identified a 1485 kb duplication at 9q31.1, including the gene SMC2, and a 853 kb deletion at 12q24.33 including the genes P2RX2, PEGAM5, GOLGA3, POLE1, CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Unfortunately, samples of parents were not available. Long term follow up of our patient underlined orthopedic problems as the major handicap in the FFS syndrome, cognitive development being normal. Unexpected discover was the association with mullerian agenesis. Both may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here. Reports of other patients would be required to confirm this.
Disciplines :
Genetics & genetic processes
Author, co-author :
JACQUINET, Adeline ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
VALDES SOCIN, Hernan Gonzalo ;  Centre Hospitalier Universitaire de Liège - CHU > Endocrinologie clinique
LIBIOULLE, Cécile ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
VERLOES, Alain;  Hopital APHP-Robert Debré > Génétique
Language :
Title :
Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
Publication date :
September 2013
Event name :
Event organizer :
Pr. Claude Stoll & Pr Jean-Pierre Fryns
Event place :
Strasbourg, France
Event date :
du 4 au 6 septembre 2013
Audience :


Number of views
50 (3 by ULiège)
Number of downloads
0 (0 by ULiège)


Similar publications

Contact ORBi