Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.
Zechi-Ceide
Roseli Maria
RM
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. roselizc@centrinho.usp.br
Guion-Almeida
Maria Leine
ML
Jehee
Fernanda Sarquis
FS
Rocha
Katia
K
Passos-Bueno
Maria Rita Santos
MR
D000505:Alopecia / Q000150:complications*; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications*; D003103:Coloboma / Q000150:complications*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D011247:Pregnancy; D013577:Syndrome