Mandibulofacial dysostosis Bauru type: Refining the phenotype

Mandibulofacial dysostosis Bauru type: Refining the phenotype

Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bau...

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Published in:American journal of medical genetics. Part A Vol. 173; no. 7; pp. 1747 - 1753
Main Authors: Moura, Priscila P., Kokitsu‐Nakata, Nancy M., Yatabe, Marília S., Vendramini‐Pittoli, Siulan, Hori, Pedro H., Guion‐Almeida, Maria L., Garib, Daniela G., Richieri‐Costa, Antonio, Zechi‐Ceide, Roseli M.
Format: Journal Article
Language:English
Published: United States Wiley Subscription Services, Inc 01-07-2017
Subjects:
Autosomal dominant inheritance
cone beam computed tomography
craniofacial anomalies
Dysostosis
Ear canal
Eyelid
Hearing loss
Heredity
Hypoplasia
Mandible
mandibulofacial dysostosis Bauru type
Maxilla
orofacial clefting
Rehabilitation
Zygomatic arch
mandibulofacial dysostosis Bauru type
craniofacial anomalies
cone beam computed tomography
orofacial clefting
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Summary:Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Radiographic aspects included downslanting of zygomatic arch, maxillary hypoplasia, microretrognathia, hypoplastic mandibular condyles, and ectopic external auditory canal. Recurrence was observed in two of eight families and the affected distribution pattern was compatible with autosomal dominant inheritance in one and autosomal recessive in another, indicating possible genetic heterogeneity for this condition. Clinical and radiographic findings in this report contribute to the delineation of this rare MFD.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38257