Saethre-Chotzen syndrome with trigonocephaly.
We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with medial schisis at the foramen occipitalis. The mother showed a mild expression of the syndrome.
Cristofori
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G
Divisione di Neuropsichiatria Infantile, Università degli Studi, Trieste, Italy.
Filippi
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G
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis; D003241:Consanguinity; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D005260:Female; D006257:Head / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D012886:Skull / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed