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Quantification of Orofacial Phenotypes in Xenopus

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Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Priscila P Moura¹, Nancy M Kokitsu-Nakata¹, Marília S Yatabe^2,3

¹Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA/USP), Bauru, São Paulo, Brazil.

American Journal of Medical Genetics. Part A

|May 31, 2017

Summary

Mandibulofacial dysostosis (MFD) Bauru type is a rare genetic disorder affecting facial bone development. This study details clinical and radiographic features in 13 individuals, highlighting potential genetic heterogeneity.

Keywords:

cone beam computed tomography craniofacial anomalies mandibulofacial dysostosis Bauru type orofacial clefting

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Tissue Preparation and Immunostaining of Mouse Craniofacial Tissues and Undecalcified Bone

Tissue Preparation and Immunostaining of Mouse Craniofacial Tissues and Undecalcified Bone

Published on: May 10, 2019

Area of Science:

Genetics
Craniofacial biology
Rare diseases

Background:

Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic disorder.
Characterized by malar hypoplasia, orofacial cleft, and micrognathia.

Purpose of the Study:

To describe the clinical and radiographic characteristics of MFD Bauru type.
To contribute to the delineation of this rare condition.

Main Methods:

Clinical and radiographic assessment of 13 individuals from eight kindreds.
Inclusion of four previously reported cases.

Main Results:

Detailed clinical findings: severe mandibular underdevelopment, midface hypoplasia, orofacial cleft, bitemporal narrowing, eyelid slanting, nasal bridge abnormalities, lip eversion, ear anomalies, and hearing loss.
Radiographic findings: downslanting zygomatic arch, maxillary hypoplasia, microretrognathia, hypoplastic mandibular condyles, and ectopic external auditory canal.
Observed recurrence in two families, suggesting possible autosomal dominant and autosomal recessive inheritance patterns, indicating genetic heterogeneity.

Conclusions:

The study delineates the clinical and radiographic spectrum of MFD Bauru type.
Findings support the potential genetic heterogeneity of MFD Bauru type.
This research aids in understanding and diagnosing this rare craniofacial condition.