Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.
We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].
Guion-Almeida
M L
ML
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002648:Child; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D005192:Family Health; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008265:Macrostomia / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities; D010641:Phenotype