Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.
We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.
Thauvin-Robinet
Christel
C
Centre de Génétique, Hôpital d'Enfants, Dijon, France. christelhauvin@hotmail.com
Rousseau
Thierry
T
Laurent
Nicole
N
Durand
Christine
C
Maingueneau
Catherine
C
Cormier-Daire
Valérie
V
Sagot
Paul
P
Faivre
Laurence
L
Nivelon-Chevallier
Annie
A
D000328:Adult; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D008334:Mandible / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D008844:Micrognathism / Q000000981:diagnostic imaging; D008865:Microstomia / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal