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Genet Couns ; 24(1): 45-55, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23610864

RESUMEN

A severe mandibular hypoplasia and microstomy with intraoral anomalies including hypoglossia, fused gums, persistence of buccopharyngeal membrane, and laryngeal hypoplasia were noted in a female newborn with the dysgnathia complex (DC). Additionally, our proposita also presented natal teeth as a probably new finding. These clinical manifestations overlapped with those of the fourth report of hypomandibular faciocranial syndrome (HFS) (31), and given that both lack for craniosynostosis (pathognomonic of HFS), we considered that both represent a subtype of DC proposed as DC sine holoprosencephaly nor synotia (DCSHS). Differential characteristics between the DCSHS, the HFS, and the DC with holoprosencephaly sine synotia are reviewed and additionally, we discussed some aspects about the nosology of the DC.


Asunto(s)
Anomalías Múltiples/diagnóstico , Holoprosencefalia/diagnóstico , Anomalías Maxilomandibulares/diagnóstico , Craneosinostosis/complicaciones , Craneosinostosis/diagnóstico , Resultado Fatal , Femenino , Cabeza/diagnóstico por imagen , Holoprosencefalia/complicaciones , Humanos , Imagenología Tridimensional , Recién Nacido , Anomalías Maxilomandibulares/complicaciones , Mandíbula/anomalías , Dientes Neonatales , Tomografía Computarizada por Rayos X/métodos
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