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Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
JACQUINET, Adeline; VALDES SOCIN, Hernan Gonzalo; LIBIOULLE, Cécile et al.
201324th EUROPEAN MEETING ON DYSMORPHOLOGY
 

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Mots-clés :
Femoro-facial syndrome; Mayer-Rokitansky-Kuster-Hauser syndrome; Müllerian agenesis; SMC2; CHFR; ZNF26; ZNF140; ZNF10; ZNF268; P2RX2; PEGAM5; GOLGA3; POLE1
Résumé :
[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 :
Génétique & processus génétiques
Auteur, co-auteur :
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
Langue du document :
Anglais
Titre :
Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
Date de publication/diffusion :
septembre 2013
Nom de la manifestation :
24th EUROPEAN MEETING ON DYSMORPHOLOGY
Organisateur de la manifestation :
Pr. Claude Stoll & Pr Jean-Pierre Fryns
Lieu de la manifestation :
Strasbourg, France
Date de la manifestation :
du 4 au 6 septembre 2013
Manifestation à portée :
International
Disponible sur ORBi :
depuis le 22 février 2016

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