Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis |
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| Authors: | Christel Thauvin-Robinet Thierry Rousseau Nicole Laurent Christine Durand Catherine Maingueneau Valérie Cormier-Daire Paul Sagot Laurence Faivre Annie Nivelon-Chevallier |
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| Institution: | 1. Centre de Génétique, Hôpital d'Enfants, Dijon, France;2. Clinique Gynécologique et Obstétrique, Maternité du Bocage, Dijon, France;3. Laboratoire d'Anatomopathologie, Hôpital du Bocage, Dijon, France;4. Service de Radiologie, Hôpital d'Enfants, Dijon, France;5. Service de Pédiatrie 1, Hôpital d'Enfants, Dijon, France;6. Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France |
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| Abstract: | 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. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | microstomia persistent buccopharyngeal membrane cleft palate agnathia |
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