Genetic counseling (Geneva, Switzerland) · 2013
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Corona-Rivera J R, Trujillo-Ponce S A, Barrios-Prieto E, Quiles-Corona M, Miguel-Jimenez K, Aguirre-Guillen R L, Bobadilla-Morales L, Corona-Rivera A
Аннотация
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.