Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.
Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings include occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental deficiency, prominent forehead, midface deficiency, broad nose and nasal root, grooved nasal tip, abnormal nares, narrow malformed ears, severe oligodontia, and large wide feet with a gap between the hallux and the second toe. The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance.
Zechi-Ceide
Roseli Maria
RM
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.
Guion-Almeida
Maria Leine
ML
Zanchetta
Sthella
S
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D005528:Foot / Q000473:pathology*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D010641:Phenotype